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	Criteria Provided Multiple Submitters No Conflicts	CA020473	rs_5030823	6 SubmittersRCV000002299 RCV000208867 RCV000703889 RCV003162205
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	19 SubmittersRCV000002300 RCV000325074 RCV000213850 RCV000627745 RCV003448242 RCV004760317
NM_000551.4(VHL):c.481C>T (p.Arg161Ter)	SNV Germline	Chr3:10149804	Pathogenic	Von Hippel-Lindau syndrome Condition: not provided Hereditary cancer-predisposing syndrome Familial infantile myasthenia Von Hippel-Lindau syndrome Chuvash polycythemia	Criteria Provided Multiple Submitters No Conflicts	CA020408	rs_5030818	12 SubmittersRCV000002301 RCV000161091 RCV000492225 RCV001280922 RCV000791367
NM_000551.4(VHL):c.499C>T (p.Arg167Trp)	SNV Germline	Chr3:10149822	Pathogenic/Likely pathogenic	Pheochromocytoma Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome Condition: not provided Von Hippel-Lindau syndrome Chuvash polycythemia Von Hippel-Lindau syndrome Nonpapillary renal cell carcinoma Chuvash polycythemia Pheochromocytoma Chuvash polycythemia	Criteria Provided Multiple Submitters No Conflicts	CA020450	rs_5030820	18 SubmittersRCV000002303 RCV000002302 RCV000132159 RCV000213079 RCV000627746 RCV000763092 RCV003992144
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 SubmittersRCV000002304 RCV000466046 RCV002336073
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	Von Hippel-Lindau syndrome Von Hippel-Lindau syndrome Chuvash polycythemia VHL-related disorder Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA020277	rs_104893824	6 SubmittersRCV000002308 RCV000698407 RCV003407257 RCV002321468
NM_000551.4(VHL):c.292T>C (p.Tyr98His)	SNV Germline	Chr3:10142139	Pathogenic	Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome Condition: not provided Von Hippel-Lindau syndrome Chuvash polycythemia VHL-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA020246	rs_5030809	15 SubmittersRCV000002309 RCV000492094 RCV000679029 RCV000684783 RCV003891425
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 SubmittersRCV000002310 RCV000220823 RCV001851578 RCV002288459
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 SubmittersRCV000002314 RCV000132356 RCV000208872 RCV000475973 RCV000679019
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 SubmittersRCV000002316 RCV005222659
NM_000551.4(VHL):c.388G>C (p.Val130Leu)	SNV Germline	Chr3:10146561	Pathogenic	Chuvash polycythemia Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome Chuvash polycythemia Von Hippel-Lindau syndrome	Criteria Provided Multiple Submitters No Conflicts	CA020325	rs_104893830	5 SubmittersRCV000002317 RCV000030586 RCV000492250 RCV001071915
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 SubmittersRCV000002318 RCV001236092
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 SubmittersRCV000002319 RCV001231697 RCV003298026 RCV004018540
NM_000551.4(VHL):c.598C>T (p.Arg200Trp)	SNV Germline	Chr3:10149921	Conflicting classifications of pathogenicity	Chuvash polycythemia not specified Von Hippel-Lindau syndrome Condition: not provided Acute leukemia of ambiguous lineage Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome Chuvash polycythemia VHL-related disorder Nonpapillary renal cell carcinoma Von Hippel-Lindau syndrome Pheochromocytoma Chuvash polycythemia Nonpapillary renal cell carcinoma	Criteria Provided Conflicting Classifications	CA020510	rs_28940298	24 SubmittersRCV000002320 RCV000122262 RCV000148922 RCV000161094 RCV000722031 RCV000574264 RCV000627742 RCV004742206 RCV002247239 RCV005024991
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 Von Hippel-Lindau syndrome Nonpapillary renal cell carcinoma Chuvash polycythemia Pheochromocytoma Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome	Criteria Provided Conflicting Classifications	CA020501	rs_28940300	8 SubmittersRCV000002322 RCV000236065 RCV000704063 RCV002490296 RCV001024480 RCV003996075
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 SubmittersRCV000002323 RCV001219111
NM_000551.4(VHL):c.250G>T (p.Val84Leu)	SNV Germline	Chr3:10142097	Pathogenic	Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome Chuvash polycythemia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA020170	rs_5030827	6 SubmittersRCV000002324 RCV002433440 RCV001851579 RCV003884333
NM_000551.4(VHL):c.277G>A (p.Gly93Ser)	SNV Germline	Chr3:10142124	Pathogenic	Pheochromocytoma Von Hippel-Lindau syndrome Von Hippel-Lindau syndrome Chuvash polycythemia Hereditary cancer-predisposing syndrome Condition: not provided Chuvash polycythemia	Criteria Provided Multiple Submitters No Conflicts	CA020230	rs_5030808	7 SubmittersRCV000002325 RCV000208813 RCV000698471 RCV002433441 RCV004998072 RCV003460405
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 SubmittersRCV000002326 RCV001052383 RCV001023261
NM_003000.3(SDHB):c.268C>T (p.Arg90Ter)	SNV Germline	Chr1:17033078	Pathogenic	Pheochromocytoma/paraganglioma syndrome 4 Hereditary cancer-predisposing syndrome Hereditary pheochromocytoma-paraganglioma Condition: not provided Pheochromocytoma Pheochromocytoma/paraganglioma syndrome 4 Gastrointestinal stromal tumor Pheochromocytoma Pheochromocytoma/paraganglioma syndrome 4 Carney-Stratakis syndrome Von Hippel-Lindau syndrome	Criteria Provided Multiple Submitters No Conflicts	CA015643	rs_74315366	16 SubmittersRCV000013616 RCV000215883 RCV000037718 RCV000183211 RCV000627749 RCV000763272 RCV003233026
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	Criteria Provided Multiple Submitters No Conflicts	CA020154	rs_193922608	11 SubmittersRCV000030582 RCV000129974 RCV001034657 RCV001547784 RCV003460493
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 Chuvash polycythemia Von Hippel-Lindau syndrome	Criteria Provided Multiple Submitters No Conflicts	CA020262	rs_193922609	5 SubmittersRCV000030583 RCV000486047 RCV000492682 RCV000816283
NM_000551.4(VHL):c.371C>T (p.Thr124Ile)	SNV Germline	Chr3:10146544	Pathogenic/Likely pathogenic	Condition: not provided Hereditary cancer-predisposing syndrome Chuvash polycythemia Von Hippel-Lindau syndrome Hereditary pheochromocytoma-paraganglioma Chuvash polycythemia Von Hippel-Lindau syndrome Nonpapillary renal cell carcinoma Pheochromocytoma	Criteria Provided Multiple Submitters No Conflicts	CA020308	rs_193922610	5 SubmittersRCV000679036 RCV004678597 RCV005222710 RCV005237435 RCV005394178
NM_000551.4(VHL):c.458T>A (p.Leu153Gln)	SNV Germline	Chr3:10146631	Conflicting classifications of pathogenicity	Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA020365	rs_193922611	2 SubmittersRCV000030587 RCV001022748
NM_000551.4(VHL):c.524A>G (p.Tyr175Cys)	SNV Germline	Chr3:10149847	Pathogenic/Likely pathogenic	Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome Chuvash polycythemia Von Hippel-Lindau syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA020462	rs_193922613	4 SubmittersRCV000030589 RCV000492408 RCV000533687 RCV004700288
NM_000551.4(VHL):c.194C>G (p.Ser65Trp)	SNV Germline	Chr3:10142041	Pathogenic	Von Hippel-Lindau syndrome Condition: not provided Chuvash polycythemia Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome	Reviewed By Expert Panel	CA020099	rs_5030826	11 SubmittersRCV000036539 RCV000497340 RCV001219547 RCV002415465
NM_000551.4(VHL):c.208G>A (p.Glu70Lys)	SNV Germline	Chr3:10142055	Pathogenic/Likely pathogenic	Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome Chuvash polycythemia Von Hippel-Lindau syndrome Chuvash polycythemia Von Hippel-Lindau syndrome Nonpapillary renal cell carcinoma Pheochromocytoma	Criteria Provided Multiple Submitters No Conflicts	CA020108	rs_5030802	9 SubmittersRCV000036540 RCV000492137 RCV001379599 RCV005394221
NM_000551.4(VHL):c.319C>G (p.Arg107Gly)	SNV Germline	Chr3:10142166	Pathogenic/Likely pathogenic	Von Hippel-Lindau syndrome Nonpapillary renal cell carcinoma Chuvash polycythemia Von Hippel-Lindau syndrome Pheochromocytoma Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA020257	rs_397516440	3 SubmittersRCV000036542 RCV000763091 RCV002321506
NM_000551.4(VHL):c.467A>G (p.Tyr156Cys)	SNV Germline	Chr3:10149790	Pathogenic	Von Hippel-Lindau syndrome Condition: not provided Hereditary cancer-predisposing syndrome Chuvash polycythemia Von Hippel-Lindau syndrome	Criteria Provided Multiple Submitters No Conflicts	CA020394	rs_397516441	6 SubmittersRCV000036543 RCV000487045 RCV000492752 RCV000631280
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 Chuvash polycythemia Von Hippel-Lindau syndrome Nonpapillary renal cell carcinoma Chuvash polycythemia Von Hippel-Lindau syndrome Pheochromocytoma Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA020389	rs_5030817	6 SubmittersRCV000036546 RCV000724861 RCV001067480 RCV005031474 RCV004948143
NM_000551.4(VHL):c.485G>T (p.Cys162Phe)	SNV Germline	Chr3:10149808	Pathogenic	Von Hippel-Lindau syndrome Chuvash polycythemia Von Hippel-Lindau syndrome	Criteria Provided Multiple Submitters No Conflicts	CA020418	rs_397516444	5 SubmittersRCV000036548 RCV002513389
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 SubmittersRCV000036549 RCV001023359 RCV001701727
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 Chuvash polycythemia Von Hippel-Lindau syndrome	Reviewed By Expert Panel	CA020131	rs_5030804	12 SubmittersRCV000079207 RCV000254892 RCV000492165 RCV001034687
NM_000551.4(VHL):c.256C>G (p.Pro86Ala)	SNV Germline	Chr3:10142103	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	CA020174	rs_398123481	5 SubmittersRCV000079208 RCV000723702 RCV001227827 RCV004686575
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 SubmittersRCV000079209 RCV000767256 RCV002321574
NM_000551.4(VHL):c.629G>A (p.Arg210Gln)	SNV Germline	Chr3:10149952	Conflicting classifications of pathogenicity	Condition: not provided Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome Chuvash polycythemia Von Hippel-Lindau syndrome not specified VHL-related disorder	Criteria Provided Conflicting Classifications	CA020530	rs_138780791	11 SubmittersRCV000115743 RCV000119153 RCV000492305 RCV000627744 RCV002267856 RCV003935103
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 SubmittersRCV000115746 RCV000208783 RCV000492260 RCV001854559
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 Condition: not provided Hereditary cancer-predisposing syndrome Chuvash polycythemia Nonpapillary renal cell carcinoma Pheochromocytoma Von Hippel-Lindau syndrome	Criteria Provided Conflicting Classifications	CA020331	rs_578091032	13 SubmittersRCV000122260 RCV000409700 RCV000467198 RCV000657025 RCV000492595 RCV002483231
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 SubmittersRCV000122261 RCV001038969 RCV003162559
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	10 SubmittersRCV000123104 RCV000524493 RCV001657771 RCV002426672 RCV003460872 RCV004742271
NM_000551.4(VHL):c.274G>T (p.Asp92Tyr)	SNV Germline	Chr3:10142121	Conflicting classifications of pathogenicity	Von Hippel-Lindau syndrome Chuvash polycythemia Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome Von Hippel-Lindau syndrome Chuvash polycythemia Pheochromocytoma Nonpapillary renal cell carcinoma	Criteria Provided Conflicting Classifications	CA020217	rs_587780731	5 SubmittersRCV000123105 RCV001016495 RCV004786385 RCV005025201
NM_000551.4(VHL):c.-35G>A	SNV Germline	Chr3:10141813	Conflicting classifications of pathogenicity	Von Hippel-Lindau syndrome not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA020304	rs_587780992	4 SubmittersRCV001148530 RCV000126299 RCV000679009
NM_000551.4(VHL):c.256C>T (p.Pro86Ser)	SNV Germline	Chr3:10142103	Pathogenic/Likely pathogenic	Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome Condition: not provided Chuvash polycythemia Von Hippel-Lindau syndrome Chuvash polycythemia	Criteria Provided Multiple Submitters No Conflicts	CA020180	rs_398123481	7 SubmittersRCV000155449 RCV000492763 RCV000413630 RCV001059327 RCV004813063
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 SubmittersRCV000154124 RCV000723964 RCV001020510
NM_000551.4(VHL):c.-5A>C	SNV Germline	Chr3:10141843	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided not specified Von Hippel-Lindau syndrome Von Hippel-Lindau syndrome Chuvash polycythemia	Criteria Provided Conflicting Classifications	CA020514	rs_35793832	8 SubmittersRCV000566000 RCV000679011 RCV001818360 RCV003998532 RCV002053943
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 Nonpapillary renal cell carcinoma Von Hippel-Lindau syndrome Chuvash polycythemia Nonpapillary renal cell carcinoma Pheochromocytoma Von Hippel-Lindau syndrome	Criteria Provided Conflicting Classifications	CA020518	rs_111246617	14 SubmittersRCV000161089 RCV000168429 RCV000294881 RCV000492422 RCV000781920 RCV003416030 RCV005359388 RCV005025251
NM_000551.4(VHL):c.194C>T (p.Ser65Leu)	SNV Germline	Chr3:10142041	Pathogenic	Pancreatic cysts Retinal capillary hemangioma Spinal hemangioblastoma Cerebellar hemangioblastoma Von Hippel-Lindau syndrome Chuvash polycythemia Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA020104	rs_5030826	4 SubmittersRCV000626711 RCV001389259 RCV004948200
NM_000551.4(VHL):c.257C>T (p.Pro86Leu)	SNV Germline	Chr3:10142104	Pathogenic	Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome Chuvash polycythemia	Reviewed By Expert Panel	CA020186	rs_730882034	6 SubmittersRCV000208836 RCV000492524 RCV001382230
NM_000551.4(VHL):c.263G>A (p.Trp88Ter)	SNV Germline	Chr3:10142110	Pathogenic	Condition: not provided Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome Chuvash polycythemia Von Hippel-Lindau syndrome	Reviewed By Expert Panel	CA020197	rs_119103277	8 SubmittersRCV000161086 RCV000492395 RCV000208798 RCV001382231
NM_000551.4(VHL):c.266T>C (p.Leu89Pro)	SNV Germline	Chr3:10142113	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome Von Hippel-Lindau syndrome Chuvash polycythemia	Criteria Provided Multiple Submitters No Conflicts	CA020207	rs_5030807	5 SubmittersRCV000161087 RCV000208869 RCV000817709
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 Von Hippel-Lindau syndrome Chuvash polycythemia	Criteria Provided Multiple Submitters No Conflicts	CA020399	rs_121913346	5 SubmittersRCV000161088 RCV000208846 RCV000492547 RCV001072084
NM_000551.4(VHL):c.482G>A (p.Arg161Gln)	SNV Germline	Chr3:10149805	Pathogenic	Chuvash polycythemia Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome Condition: not provided Von Hippel-Lindau syndrome Chuvash polycythemia Pheochromocytoma Nonpapillary renal cell carcinoma Von Hippel-Lindau syndrome VHL-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA020413	rs_730882035	11 SubmittersRCV000456958 RCV000563066 RCV000161092 RCV000208848 RCV005394565 RCV004742286
NM_000551.4(VHL):c.525C>G (p.Tyr175Ter)	SNV Germline	Chr3:10149848	Pathogenic	Von Hippel-Lindau syndrome Von Hippel-Lindau syndrome Chuvash polycythemia	Criteria Provided Multiple Submitters No Conflicts	CA020466	rs_5030835	2 SubmittersRCV000549585 RCV001388392
NM_000551.4(VHL):c.572A>C (p.His191Pro)	SNV Germline	Chr3:10149895	Conflicting classifications of pathogenicity	Condition: not provided Von Hippel-Lindau syndrome Chuvash polycythemia Hereditary cancer-predisposing syndrome Chuvash polycythemia	Criteria Provided Conflicting Classifications	CA020500	rs_370050374	4 SubmittersRCV000161093 RCV000200136 RCV002345555 RCV003462112
NM_000551.4(VHL):c.631A>C (p.Met211Leu)	SNV Germline	Chr3:10149954	Conflicting classifications of pathogenicity	not specified Von Hippel-Lindau syndrome Von Hippel-Lindau syndrome Chuvash polycythemia Hereditary cancer-predisposing syndrome Condition: not provided VHL-related disorder	Criteria Provided Conflicting Classifications	CA020534	rs_200019083	13 SubmittersRCV000161101 RCV000287076 RCV000541199 RCV001025130 RCV001704152 RCV004742287
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 Chuvash polycythemia Condition: not provided Nonpapillary renal cell carcinoma Pheochromocytoma Chuvash polycythemia Von Hippel-Lindau syndrome	Criteria Provided Conflicting Classifications	CA020113	rs_786202857	5 SubmittersRCV000165891 RCV000227354 RCV003462191 RCV001545934 RCV005025264
NM_000551.4(VHL):c.238A>G (p.Ser80Gly)	SNV Germline	Chr3:10142085	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome Chuvash polycythemia Von Hippel-Lindau syndrome	Criteria Provided Multiple Submitters No Conflicts	CA020142	rs_786202787	4 SubmittersRCV000165774 RCV002307423 RCV001388793
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 Nonpapillary renal cell carcinoma Pheochromocytoma Von Hippel-Lindau syndrome VHL-related disorder Chuvash polycythemia	Criteria Provided Conflicting Classifications	CA020224	rs_749091984	9 SubmittersRCV000163954 RCV000412307 RCV000525495 RCV000679028 RCV002485013 RCV003389706 RCV003462123
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 SubmittersRCV000173161 RCV000724457
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 SubmittersRCV000177084 RCV000724622 RCV003765094
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 SubmittersRCV001317982 RCV003462331 RCV004020464
NM_000551.4(VHL):c.293A>C (p.Tyr98Ser)	SNV Germline	Chr3:10142140	Pathogenic/Likely pathogenic	Von Hippel-Lindau syndrome Pheochromocytoma Hereditary cancer-predisposing syndrome Chuvash polycythemia Von Hippel-Lindau syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA279916	rs_864321643	5 SubmittersRCV000208847 RCV000203508 RCV002433899 RCV001064921 RCV004721296
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 SubmittersRCV001018501 RCV001370713
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 SubmittersRCV000204667 RCV004948213
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	Criteria Provided Multiple Submitters No Conflicts	CA348491	rs_5030810	3 SubmittersRCV000204250 RCV000456132 RCV003165497
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 Pheochromocytoma Von Hippel-Lindau syndrome Nonpapillary renal cell carcinoma	Criteria Provided Conflicting Classifications	CA041490	rs_778205243	9 SubmittersRCV000204757 RCV000235376 RCV000663322 RCV001024120 RCV004567477 RCV005031779
NM_000551.4(VHL):c.628C>T (p.Arg210Trp)	SNV Germline	Chr3:10149951	Conflicting classifications of pathogenicity	Von Hippel-Lindau syndrome Chuvash polycythemia Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome Condition: not provided Maffucci syndrome Chuvash polycythemia not specified Von Hippel-Lindau syndrome Pheochromocytoma Nonpapillary renal cell carcinoma Chuvash polycythemia	Criteria Provided Conflicting Classifications	CA041992	rs_774380450	10 SubmittersRCV000204248 RCV000662950 RCV000568942 RCV001582712 RCV002467673 RCV003468958 RCV005230083 RCV005031778
NM_000551.4(VHL):c.193T>G (p.Ser65Ala)	SNV Germline	Chr3:10142040	Likely pathogenic	Von Hippel-Lindau syndrome	No Assertion Criteria Provided	CA357048	rs_869025616	1 SubmittersRCV000208812
NM_000551.4(VHL):c.194C>A (p.Ser65Ter)	SNV Germline	Chr3:10142041	Pathogenic	Von Hippel-Lindau syndrome Condition: not provided Von Hippel-Lindau syndrome Chuvash polycythemia Chuvash polycythemia	Criteria Provided Multiple Submitters No Conflicts	CA357085	rs_5030826	5 SubmittersRCV000208831 RCV003233497 RCV001213116 RCV002509303
NM_000551.4(VHL):c.203C>A (p.Ser68Ter)	SNV Germline	Chr3:10142050	Pathogenic	Von Hippel-Lindau syndrome Von Hippel-Lindau syndrome Chuvash polycythemia Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA357051	rs_869025617	3 SubmittersRCV000208815 RCV001389820 RCV004948217
NM_000551.4(VHL):c.214T>C (p.Ser72Pro)	SNV Germline	Chr3:10142061	Pathogenic/Likely pathogenic	Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome Chuvash polycythemia	Criteria Provided Multiple Submitters No Conflicts	CA357006	rs_869025618	4 SubmittersRCV000208787 RCV000492124 RCV001382227
NM_000551.4(VHL):c.217C>T (p.Gln73Ter)	SNV Germline	Chr3:10142064	Pathogenic	Von Hippel-Lindau syndrome Condition: not provided Von Hippel-Lindau syndrome Chuvash polycythemia	Criteria Provided Multiple Submitters No Conflicts	CA357036	rs_869025619	3 SubmittersRCV000208804 RCV000679022 RCV001218191
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 SubmittersRCV000208818 RCV000568344
NM_000551.4(VHL):c.233A>C (p.Asn78Thr)	SNV Germline	Chr3:10142080	Pathogenic	Von Hippel-Lindau syndrome Condition: not provided Von Hippel-Lindau syndrome Chuvash polycythemia	Criteria Provided Multiple Submitters No Conflicts	CA357095	rs_5030804	3 SubmittersRCV000208838 RCV000679024 RCV000805326
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 SubmittersRCV000208821 RCV000803184
NM_000551.4(VHL):c.257C>G (p.Pro86Arg)	SNV Germline	Chr3:10142104	Pathogenic/Likely pathogenic	Von Hippel-Lindau syndrome Von Hippel-Lindau syndrome Chuvash polycythemia Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA357142	rs_730882034	7 SubmittersRCV000208868 RCV000631258 RCV002426981 RCV003237772
NM_000551.4(VHL):c.264G>T (p.Trp88Cys)	SNV Germline	Chr3:10142111	Likely pathogenic	Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome Chuvash polycythemia	Reviewed By Expert Panel	CA357078	rs_869025622	5 SubmittersRCV000208827 RCV000492552 RCV000537014
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 SubmittersRCV000208809 RCV002426982
NM_000551.4(VHL):c.277G>C (p.Gly93Arg)	SNV Germline	Chr3:10142124	Likely pathogenic	Von Hippel-Lindau syndrome Von Hippel-Lindau syndrome Chuvash polycythemia Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA357130	rs_5030808	3 SubmittersRCV000208861 RCV001035237 RCV002433917
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 Von Hippel-Lindau syndrome Chuvash polycythemia	Criteria Provided Single Submitter	CA357072	rs_864321643	4 SubmittersRCV000208825 RCV001357107 RCV001218807
NM_000551.4(VHL):c.311G>T (p.Gly104Val)	SNV Germline	Chr3:10142158	Conflicting classifications of pathogenicity	Von Hippel-Lindau syndrome Von Hippel-Lindau syndrome Chuvash polycythemia Condition: not provided	Criteria Provided Conflicting Classifications	CA357033	rs_869025630	6 SubmittersRCV000208803 RCV005222830 RCV000679030
NM_000551.4(VHL):c.320G>A (p.Arg107His)	SNV Germline	Chr3:10142167	Pathogenic	Von Hippel-Lindau syndrome VHL-related disorder Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome Chuvash polycythemia	Criteria Provided Multiple Submitters No Conflicts	CA357135	rs_193922609	4 SubmittersRCV000208864 RCV003897458 RCV000492448 RCV001379601
NM_000551.4(VHL):c.332G>A (p.Ser111Asn)	SNV Germline	Chr3:10142179	Pathogenic	Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome Chuvash polycythemia	Criteria Provided Multiple Submitters No Conflicts	CA357091	rs_869025631	4 SubmittersRCV000208834 RCV000492721 RCV002517414
NM_000551.4(VHL):c.333C>G (p.Ser111Arg)	SNV Germline	Chr3:10142180	Pathogenic	Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome Chuvash polycythemia	Criteria Provided Multiple Submitters No Conflicts	CA040305	rs_765978945	3 SubmittersRCV000208866 RCV000492675 RCV001204150
NM_000551.4(VHL):c.335A>G (p.Tyr112Cys)	SNV Germline	Chr3:10142182	Conflicting classifications of pathogenicity	Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome Chuvash polycythemia Von Hippel-Lindau syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA357115	rs_869025633	5 SubmittersRCV000208852 RCV000219736 RCV000631262 RCV001289414
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 SubmittersRCV000208843 RCV003765349 RCV005512713
NM_000551.4(VHL):c.340+1G>A	SNV Germline	Chr3:10142188	Pathogenic	Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome Condition: not provided Von Hippel-Lindau syndrome Chuvash polycythemia	Criteria Provided Multiple Submitters No Conflicts	CA357042	rs_730882032	5 SubmittersRCV000208808 RCV004020566 RCV001701877 RCV001044454
NM_000551.4(VHL):c.341-2A>G	SNV Germline	Chr3:10146512	Pathogenic	Von Hippel-Lindau syndrome Von Hippel-Lindau syndrome Chuvash polycythemia	Reviewed By Expert Panel	CA357004	rs_869025637	4 SubmittersRCV000208784 RCV001034627
NM_000551.4(VHL):c.358A>G (p.Arg120Gly)	SNV Germline	Chr3:10146531	Likely pathogenic	Von Hippel-Lindau syndrome Condition: not provided Von Hippel-Lindau syndrome Chuvash polycythemia	Criteria Provided Multiple Submitters No Conflicts	CA357028	rs_869025642	6 SubmittersRCV000208800 RCV001701790 RCV001379374
NM_000551.4(VHL):c.362A>G (p.Asp121Gly)	SNV Germline	Chr3:10146535	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	CA357083	rs_5030832	5 SubmittersRCV000208830 RCV000679035 RCV004020567 RCV000801501
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 SubmittersRCV000208860 RCV004678642
NM_000551.4(VHL):c.414A>G (p.Pro138=)	SNV Germline	Chr3:10146587	Pathogenic	Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome Chuvash polycythemia Von Hippel-Lindau syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA357138	rs_869025648	7 SubmittersRCV000208865 RCV000216698 RCV000469600 RCV001636725
NM_000551.4(VHL):c.430G>T (p.Gly144Ter)	SNV Germline	Chr3:10146603	Pathogenic	Von Hippel-Lindau syndrome Von Hippel-Lindau syndrome Chuvash polycythemia Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA357109	rs_869025650	3 SubmittersRCV000208850 RCV000692586 RCV004948219
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 SubmittersRCV000208822 RCV002327073
NM_000551.4(VHL):c.445G>C (p.Ala149Pro)	SNV Germline	Chr3:10146618	Pathogenic	Von Hippel-Lindau syndrome Von Hippel-Lindau syndrome Chuvash polycythemia	Criteria Provided Single Submitter	CA357120	rs_587780077	2 SubmittersRCV000208855 RCV001853329
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 Condition: not provided Von Hippel-Lindau syndrome Chuvash polycythemia	Criteria Provided Multiple Submitters No Conflicts	CA357026	rs_869025659	4 SubmittersRCV000208799 RCV004596112 RCV002515564
NM_000551.4(VHL):c.463+1G>C	SNV Germline	Chr3:10146637	Likely pathogenic	Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Single Submitter	CA357023	rs_869025657	2 SubmittersRCV000208796 RCV005298462
NM_000551.4(VHL):c.470C>T (p.Thr157Ile)	SNV Germline	Chr3:10149793	Pathogenic	Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA357133	rs_869025660	3 SubmittersRCV000208862 RCV004678643 RCV001289415
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 SubmittersRCV000208789 RCV003278699
NM_000551.4(VHL):c.486C>A (p.Cys162Ter)	SNV Germline	Chr3:10149809	Pathogenic	Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome Chuvash polycythemia	Criteria Provided Multiple Submitters No Conflicts	CA357112	rs_5030622	3 SubmittersRCV000208851 RCV003165513 RCV001061348
NM_000551.4(VHL):c.486C>G (p.Cys162Trp)	SNV Germline	Chr3:10149809	Pathogenic	Von Hippel-Lindau syndrome Von Hippel-Lindau syndrome Chuvash polycythemia Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA357016	rs_5030622	4 SubmittersRCV000208792 RCV000226031 RCV000567560 RCV000679043
NM_000551.4(VHL):c.490C>T (p.Gln164Ter)	SNV Germline	Chr3:10149813	Pathogenic	Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome Chuvash polycythemia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA357060	rs_5030819	5 SubmittersRCV000208820 RCV002336585 RCV000792769 RCV000485182
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 Pheochromocytoma Nonpapillary renal cell carcinoma Von Hippel-Lindau syndrome VHL-related disorder Chuvash polycythemia Hereditary cancer	Criteria Provided Conflicting Classifications	CA041601	rs_561874453	13 SubmittersRCV000208797 RCV000236099 RCV000565491 RCV000631260 RCV002485365 RCV003422117 RCV003462397 RCV005230091
NM_000551.4(VHL):c.555C>G (p.Tyr185Ter)	SNV Germline	Chr3:10149878	Pathogenic/Likely pathogenic	Von Hippel-Lindau syndrome Von Hippel-Lindau syndrome Chuvash polycythemia Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA357075	rs_864622109	3 SubmittersRCV000208826 RCV001377065 RCV000219064
NM_000551.4(VHL):c.593T>C (p.Leu198Pro)	SNV Germline	Chr3:10149916	Likely pathogenic	Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA357145	rs_869025667	4 SubmittersRCV000208871 RCV001024703
NM_000551.4(VHL):c.641G>T (p.Ter214Leu)	SNV Germline	Chr3:10149964	Likely pathogenic	Von Hippel-Lindau syndrome Von Hippel-Lindau syndrome Chuvash polycythemia	Criteria Provided Single Submitter	CA357103	rs_869025668	2 SubmittersRCV000208844 RCV003765350
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	5 SubmittersRCV000216720 RCV000588802 RCV001382229
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 Chuvash polycythemia Pheochromocytoma Von Hippel-Lindau syndrome Nonpapillary renal cell carcinoma not specified	Criteria Provided Conflicting Classifications	CA040825	rs_578091032	9 SubmittersRCV000228663 RCV000236708 RCV000411808 RCV000562501 RCV002487052 RCV002307459
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	4 SubmittersRCV000226904 RCV002418000 RCV003226914 RCV005401394
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	6 SubmittersRCV000236098 RCV001011022 RCV001081208 RCV003998847
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 Pheochromocytoma Von Hippel-Lindau syndrome Nonpapillary renal cell carcinoma Condition: not provided	Criteria Provided Conflicting Classifications	CA039640	rs_757781272	8 SubmittersRCV000230639 RCV000663291 RCV001012878 RCV002500764 RCV003151759
NM_000551.4(VHL):c.463+4C>T	SNV Germline	Chr3:10146640	Conflicting classifications of pathogenicity	Chuvash polycythemia Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome Condition: not provided Von Hippel-Lindau syndrome Chuvash polycythemia Nonpapillary renal cell carcinoma Pheochromocytoma Von Hippel-Lindau syndrome	Criteria Provided Conflicting Classifications	CA10584230	rs_879253989	6 SubmittersRCV000560865 RCV001022813 RCV000679042 RCV003998905 RCV005025396
NM_000551.4(VHL):c.394C>T (p.Gln132Ter)	SNV Germline	Chr3:10146567	Pathogenic	Condition: not provided Von Hippel-Lindau syndrome Von Hippel-Lindau syndrome Chuvash polycythemia	Criteria Provided Multiple Submitters No Conflicts	CA10606205	rs_5030813	3 SubmittersRCV000404768 RCV000767266 RCV001859684
NM_000551.4(VHL):c.-64C>T	SNV Germline	Chr3:10141784	Conflicting classifications of pathogenicity	Von Hippel-Lindau syndrome Condition: not provided VHL-related disorder Hereditary cancer-predisposing syndrome Chuvash polycythemia Von Hippel-Lindau syndrome	Criteria Provided Conflicting Classifications	CA10614384	rs_772944298	6 SubmittersRCV000330011 RCV000679013 RCV003892005 RCV002256218 RCV002057820
NM_000551.4(VHL):c.639T>C (p.Asp213=)	SNV Germline	Chr3:10149962	Conflicting classifications of pathogenicity	Von Hippel-Lindau syndrome Chuvash polycythemia Von Hippel-Lindau syndrome Condition: not provided Hereditary cancer-predisposing syndrome not specified	Criteria Provided Conflicting Classifications	CA042035	rs_775624944	8 SubmittersRCV000342034 RCV001081661 RCV000679045 RCV001025221 RCV005238930
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 Chuvash polycythemia Pheochromocytoma Von Hippel-Lindau syndrome Nonpapillary renal cell carcinoma Chuvash polycythemia	Criteria Provided Conflicting Classifications	CA16043991	rs_1057519261	9 SubmittersRCV000415643 RCV000476548 RCV001016912 RCV001584111 RCV003463824 RCV002488864
NM_000551.4(VHL):c.*7C>A	SNV Germline	Chr3:10149972	Conflicting classifications of pathogenicity	Condition: not provided Von Hippel-Lindau syndrome VHL-related disorder	Criteria Provided Conflicting Classifications	CA042089	rs_778005138	5 SubmittersRCV001703586 RCV005600907 RCV004742417
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 Nonpapillary renal cell carcinoma Pheochromocytoma	Criteria Provided Conflicting Classifications	CA16611052	rs_1060503557	6 SubmittersRCV000458939 RCV000579235 RCV000663055 RCV002418424 RCV005027533
NM_000551.4(VHL):c.43G>A (p.Ala15Thr)	SNV Germline	Chr3:10141890	Conflicting classifications of pathogenicity	Chuvash polycythemia Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome Chuvash polycythemia Von Hippel-Lindau syndrome	Criteria Provided Conflicting Classifications	CA16611060	rs_1060503568	4 SubmittersRCV000457623 RCV002329080 RCV003470500 RCV004001994
NM_000551.4(VHL):c.235C>G (p.Arg79Gly)	SNV Germline	Chr3:10142082	Conflicting classifications of pathogenicity	Von Hippel-Lindau syndrome Chuvash polycythemia Pheochromocytoma Von Hippel-Lindau syndrome Chuvash polycythemia Nonpapillary renal cell carcinoma Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA16611065	rs_200885420	4 SubmittersRCV000475786 RCV002475891 RCV004022892 RCV004722797
NM_000551.4(VHL):c.115G>C (p.Gly39Arg)	SNV Germline	Chr3:10141962	Conflicting classifications of pathogenicity	Chuvash polycythemia Von Hippel-Lindau syndrome Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA039367	rs_768650092	4 SubmittersRCV000463141 RCV001550254 RCV002356707
NM_000551.4(VHL):c.429C>T (p.Asp143=)	SNV Germline	Chr3:10146602	Conflicting classifications of pathogenicity	Chuvash polycythemia Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome not specified Von Hippel-Lindau syndrome Condition: not provided Pheochromocytoma Nonpapillary renal cell carcinoma Chuvash polycythemia Von Hippel-Lindau syndrome	Criteria Provided Conflicting Classifications	CA040956	rs_773556807	6 SubmittersRCV000470382 RCV000564320 RCV000613763 RCV004002229 RCV002056727 RCV005027539
NM_000551.4(VHL):c.462A>G (p.Pro154=)	SNV Germline/somatic	Chr3:10146635	Conflicting classifications of pathogenicity	Chuvash polycythemia Von Hippel-Lindau syndrome Lung sarcomatoid carcinoma Condition: not provided	Criteria Provided Conflicting Classifications	CA16611069	rs_1060503562	3 SubmittersRCV000474447 RCV003322605 RCV003317229
NM_000551.4(VHL):c.620C>T (p.Ala207Val)	SNV Germline	Chr3:10149943	Conflicting classifications of pathogenicity	Chuvash polycythemia Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome Chuvash polycythemia Pheochromocytoma Nonpapillary renal cell carcinoma Von Hippel-Lindau syndrome Condition: not provided Von Hippel-Lindau syndrome	Criteria Provided Conflicting Classifications	CA16611076	rs_1060503549	5 SubmittersRCV000461637 RCV002365666 RCV005027532 RCV003317228 RCV004802021
NM_000551.4(VHL):c.323G>A (p.Arg108His)	SNV Germline	Chr3:10142170	Conflicting classifications of pathogenicity	Chuvash polycythemia Von Hippel-Lindau syndrome 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 SubmittersRCV000458083 RCV001019385 RCV002269278 RCV004001987 RCV002489087
NM_000551.4(VHL):c.373C>T (p.His125Tyr)	SNV Germline	Chr3:10146546	Conflicting classifications of pathogenicity	Chuvash polycythemia Von Hippel-Lindau syndrome Condition: not provided Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome Pheochromocytoma Nonpapillary renal cell carcinoma Chuvash polycythemia Von Hippel-Lindau syndrome	Criteria Provided Conflicting Classifications	CA040676	rs_375401722	8 SubmittersRCV000462284 RCV000479517 RCV000708764 RCV002272247 RCV002489086
NM_000551.4(VHL):c.548C>T (p.Ser183Leu)	SNV Germline	Chr3:10149871	Conflicting classifications of pathogenicity	Chuvash polycythemia Von Hippel-Lindau syndrome Chuvash polycythemia Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome Condition: not provided Pheochromocytoma Nonpapillary renal cell carcinoma Chuvash polycythemia Von Hippel-Lindau syndrome	Criteria Provided Conflicting Classifications	CA041537	rs_5030823	9 SubmittersRCV000476376 RCV001007624 RCV002349982 RCV004001991 RCV003237874 RCV005027537
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 SubmittersRCV000464021 RCV003168861
NM_000551.4(VHL):c.586A>G (p.Lys196Glu)	SNV Germline	Chr3:10149909	Conflicting classifications of pathogenicity	Chuvash polycythemia Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome Chuvash polycythemia Von Hippel-Lindau syndrome	Criteria Provided Conflicting Classifications	CA16611099	rs_281860296	4 SubmittersRCV000476155 RCV002356706 RCV004568088 RCV004001993
NM_000551.4(VHL):c.18G>T (p.Glu6Asp)	SNV Germline	Chr3:10141865	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	CA16611153	rs_1004620245	4 SubmittersRCV000459599 RCV002411515 RCV005054197 RCV004802022
NM_000551.4(VHL):c.21C>A (p.Asn7Lys)	SNV Germline	Chr3:10141868	Conflicting classifications of pathogenicity	Chuvash polycythemia Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome Condition: not provided Chuvash polycythemia Pheochromocytoma Nonpapillary renal cell carcinoma Von Hippel-Lindau syndrome	Criteria Provided Conflicting Classifications	CA16611156	rs_1060503561	5 SubmittersRCV000462197 RCV000574549 RCV001356021 RCV005027534
NM_000551.4(VHL):c.26A>C (p.Asp9Ala)	SNV Germline	Chr3:10141873	Conflicting classifications of pathogenicity	Chuvash polycythemia Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA16611161	rs_1060503560	2 SubmittersRCV000471735 RCV002436462
NM_000551.4(VHL):c.27C>A (p.Asp9Glu)	SNV Germline	Chr3:10141874	Conflicting classifications of pathogenicity	Chuvash polycythemia Von Hippel-Lindau syndrome Condition: not provided Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome	Criteria Provided Conflicting Classifications	CA16611250	rs_1017141110	4 SubmittersRCV000456617 RCV003441887 RCV002436463 RCV004001988
NM_000551.4(VHL):c.488T>G (p.Leu163Arg)	SNV Germline	Chr3:10149811	Pathogenic	Chuvash polycythemia Von Hippel-Lindau syndrome Von Hippel-Lindau syndrome	Criteria Provided Multiple Submitters No Conflicts	CA16611277	rs_28940297	2 SubmittersRCV000474133 RCV005624214
NM_000551.4(VHL):c.613C>T (p.Arg205Cys)	SNV Germline	Chr3:10149936	Conflicting classifications of pathogenicity	Chuvash polycythemia Von Hippel-Lindau syndrome Condition: not provided Chuvash polycythemia Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome Chuvash polycythemia Pheochromocytoma Nonpapillary renal cell carcinoma Von Hippel-Lindau syndrome	Criteria Provided Conflicting Classifications	CA041940	rs_199926195	7 SubmittersRCV000471333 RCV000481600 RCV004568086 RCV002356704 RCV004787738 RCV005027535
NM_000551.4(VHL):c.221T>C (p.Val74Ala)	SNV Germline	Chr3:10142068	Conflicting classifications of pathogenicity	Condition: not provided Chuvash polycythemia Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome Pheochromocytoma Nonpapillary renal cell carcinoma Chuvash polycythemia Von Hippel-Lindau syndrome	Criteria Provided Conflicting Classifications	CA16617786	rs_5030803	4 SubmittersRCV000484327 RCV000698497 RCV005298500 RCV002475938
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 SubmittersRCV000479941 RCV000767237 RCV001201718 RCV004678722
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 SubmittersRCV000482784 RCV002525827 RCV005056049 RCV005512750
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 SubmittersRCV000484822 RCV001258069 RCV005222956
NM_000551.4(VHL):c.599G>A (p.Arg200Gln)	SNV Germline	Chr3:10149922	Conflicting classifications of pathogenicity	Condition: not provided Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome VHL-related disorder Chuvash polycythemia Von Hippel-Lindau syndrome Chuvash polycythemia	Criteria Provided Conflicting Classifications	CA041791	rs_754016774	7 SubmittersRCV000479035 RCV001143974 RCV001024771 RCV003401545 RCV000823835 RCV003464021
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 Hereditary cancer-predisposing syndrome Pheochromocytoma Nonpapillary renal cell carcinoma Chuvash polycythemia Von Hippel-Lindau syndrome Von Hippel-Lindau syndrome	Criteria Provided Conflicting Classifications	CA041951	rs_777130107	8 SubmittersRCV000481472 RCV000631259 RCV001024946 RCV000764460 RCV004787783
NM_000551.4(VHL):c.208G>T (p.Glu70Ter)	SNV Germline	Chr3:10142055	Pathogenic	Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome Condition: not provided	Reviewed By Expert Panel	CA16602179	rs_5030802	4 SubmittersRCV000767235 RCV000492695 RCV000679020
NM_000551.4(VHL):c.250G>A (p.Val84Met)	SNV Germline	Chr3:10142097	Pathogenic/Likely pathogenic	Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome Chuvash polycythemia Von Hippel-Lindau syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA351750580	rs_5030827	5 SubmittersRCV000767245 RCV000492467 RCV000631269 RCV004721392
NM_000551.4(VHL):c.341-3T>G	SNV Germline	Chr3:10146511	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome	Criteria Provided Conflicting Classifications	CA16020704	rs_1131690965	2 SubmittersRCV000492211 RCV000767259
NM_000551.4(VHL):c.353T>C (p.Leu118Pro)	SNV Germline	Chr3:10146526	Pathogenic	Hereditary cancer-predisposing syndrome Condition: not provided Von Hippel-Lindau syndrome Chuvash polycythemia Von Hippel-Lindau syndrome	Criteria Provided Multiple Submitters No Conflicts	CA70049399	rs_5030830	5 SubmittersRCV000492175 RCV001702663 RCV004591439 RCV000801496
NM_000551.4(VHL):c.353T>G (p.Leu118Arg)	SNV Germline	Chr3:10146526	Pathogenic	Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA351753694	rs_5030830	2 SubmittersRCV003233031 RCV000492280
NM_000551.4(VHL):c.452T>C (p.Ile151Thr)	SNV Germline	Chr3:10146625	Pathogenic	Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome See cases Chuvash polycythemia Von Hippel-Lindau syndrome	Criteria Provided Multiple Submitters No Conflicts	CA351754359	rs_869025655	4 SubmittersRCV000590238 RCV000492569 RCV004584391 RCV000705307
NM_000551.4(VHL):c.463+3A>G	SNV Germline	Chr3:10146639	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Chuvash polycythemia Von Hippel-Lindau syndrome Pheochromocytoma Von Hippel-Lindau syndrome	Criteria Provided Conflicting Classifications	CA645369331	rs_1131690954	7 SubmittersRCV000492736 RCV000587888 RCV005222967 RCV001809448 RCV003316644
NM_000551.4(VHL):c.500G>C (p.Arg167Pro)	SNV Germline	Chr3:10149823	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome	Criteria Provided Multiple Submitters No Conflicts	CA351756177	rs_5030821	2 SubmittersRCV000492510 RCV000767282
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	Criteria Provided Conflicting Classifications	CA351756191	rs_1131690962	2 SubmittersRCV000492632 RCV003766762
NM_000551.4(VHL):c.533T>C (p.Leu178Pro)	SNV Germline	Chr3:10149856	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Condition: not provided Von Hippel-Lindau syndrome Chuvash polycythemia Von Hippel-Lindau syndrome	Criteria Provided Multiple Submitters No Conflicts	CA351756245	rs_5030822	6 SubmittersRCV000492520 RCV004701555 RCV000767287 RCV000631291
NM_000551.4(VHL):c.581T>G (p.Val194Gly)	SNV Germline	Chr3:10149904	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome Chuvash polycythemia Von Hippel-Lindau syndrome Pheochromocytoma Von Hippel-Lindau syndrome Chuvash polycythemia Nonpapillary renal cell carcinoma	Criteria Provided Conflicting Classifications	CA351756475	rs_1131690963	4 SubmittersRCV000492180 RCV000547627 RCV005056071 RCV005398712
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 SubmittersRCV000492237 RCV001030024
NM_000551.4(VHL):c.289C>A (p.Pro97Thr)	SNV Germline	Chr3:10142136	Conflicting classifications of pathogenicity	Chuvash polycythemia Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA351750843	rs_863224688	2 SubmittersRCV000536081 RCV005298511
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 SubmittersRCV000559388 RCV003478129 RCV004787842 RCV005298510
NM_000551.4(VHL):c.31G>C (p.Ala11Pro)	SNV Germline	Chr3:10141878	Conflicting classifications of pathogenicity	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	CA351747101	rs_1236604706	4 SubmittersRCV000554589 RCV000764457 RCV001019152 RCV004791523
NM_000551.4(VHL):c.262T>A (p.Trp88Arg)	SNV Germline	Chr3:10142109	Pathogenic	Chuvash polycythemia Von Hippel-Lindau syndrome Von Hippel-Lindau syndrome Condition: not provided Hereditary cancer-predisposing syndrome Chuvash polycythemia	Criteria Provided Multiple Submitters No Conflicts	CA351750671	rs_1553619431	7 SubmittersRCV000558602 RCV000587190 RCV000679026 RCV002431533 RCV003459186
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 SubmittersRCV000553383 RCV001021117 RCV001764530
NM_000551.4(VHL):c.385C>T (p.Leu129=)	SNV Germline	Chr3:10146558	Conflicting classifications of pathogenicity	Von Hippel-Lindau syndrome Chuvash polycythemia Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome	Criteria Provided Conflicting Classifications	CA040752	rs_369018004	3 SubmittersRCV000546965 RCV002358438 RCV005620962
NM_000551.4(VHL):c.492G>T (p.Gln164His)	SNV Germline	Chr3:10149815	Pathogenic/Likely pathogenic	Chuvash polycythemia Von Hippel-Lindau syndrome Condition: not provided Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome	Criteria Provided Multiple Submitters No Conflicts	CA351756157	rs_1352275281	4 SubmittersRCV000538803 RCV002508221 RCV003302779 RCV003330751
NM_000551.4(VHL):c.12G>A (p.Arg4=)	SNV Germline	Chr3:10141859	Conflicting classifications of pathogenicity	Von Hippel-Lindau syndrome Chuvash polycythemia Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA432536137	rs_1553619274	4 SubmittersRCV000551863 RCV005620959 RCV002384044 RCV004592548
NM_000551.4(VHL):c.37G>A (p.Val13Ile)	SNV Germline	Chr3:10141884	Conflicting classifications of pathogenicity	Chuvash polycythemia Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA70042199	rs_919338576	2 SubmittersRCV000532105 RCV004023757
NM_000551.4(VHL):c.99G>C (p.Ser33=)	SNV Germline	Chr3:10141946	Conflicting classifications of pathogenicity	Von Hippel-Lindau syndrome Chuvash polycythemia Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA70042269	rs_912159589	5 SubmittersRCV000555182 RCV001150097 RCV002384045
NM_000551.4(VHL):c.105C>G (p.Ala35=)	SNV Germline	Chr3:10141952	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome Chuvash polycythemia Von Hippel-Lindau syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA432536266	rs_1310829877	6 SubmittersRCV001009767 RCV000542575 RCV001150098 RCV001797098
NM_000551.4(VHL):c.312C>T (p.Gly104=)	SNV Germline	Chr3:10142159	Conflicting classifications of pathogenicity	Von Hippel-Lindau syndrome Chuvash polycythemia Condition: not provided Hereditary cancer-predisposing syndrome VHL-related disorder Von Hippel-Lindau syndrome Nonpapillary renal cell carcinoma Chuvash polycythemia Pheochromocytoma Von Hippel-Lindau syndrome	Criteria Provided Conflicting Classifications	CA70046276	rs_946898891	6 SubmittersRCV000539418 RCV001545850 RCV001018749 RCV003392366 RCV005034085 RCV005620961
NM_000551.4(VHL):c.385C>G (p.Leu129Val)	SNV Germline	Chr3:10146558	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome Chuvash polycythemia Condition: not provided Von Hippel-Lindau syndrome	Criteria Provided Conflicting Classifications	CA040734	rs_369018004	6 SubmittersRCV000568082 RCV000707457 RCV003441963 RCV004787963
NM_000551.4(VHL):c.302T>C (p.Leu101Pro)	SNV Germline	Chr3:10142149	Likely pathogenic	Hereditary cancer-predisposing syndrome Chuvash polycythemia Von Hippel-Lindau syndrome	Criteria Provided Multiple Submitters No Conflicts	CA351751000	rs_1553619456	2 SubmittersRCV000574983 RCV001858152
NM_000551.4(VHL):c.487C>T (p.Leu163Phe)	SNV Germline	Chr3:10149810	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Chuvash polycythemia Von Hippel-Lindau syndrome Von Hippel-Lindau syndrome	Criteria Provided Multiple Submitters No Conflicts	CA351756135	rs_1553620318	3 SubmittersRCV000561095 RCV001224534 RCV005056204
NM_000551.4(VHL):c.460C>T (p.Pro154Ser)	SNV Germline	Chr3:10146633	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome Chuvash polycythemia Von Hippel-Lindau syndrome	Criteria Provided Multiple Submitters No Conflicts	CA351754405	rs_1553619993	4 SubmittersRCV000566330 RCV001046833 RCV001420952
NM_000551.4(VHL):c.508G>A (p.Val170Ile)	SNV Germline	Chr3:10149831	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome Chuvash polycythemia Von Hippel-Lindau syndrome Nonpapillary renal cell carcinoma Chuvash polycythemia Pheochromocytoma Chuvash polycythemia Condition: not provided	Criteria Provided Conflicting Classifications	CA351756194	rs_1553620326	7 SubmittersRCV000569840 RCV001210329 RCV002483543 RCV004568224 RCV003322793
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 SubmittersRCV000586256 RCV001853983 RCV005000363
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 SubmittersRCV000589183 RCV002377215 RCV005223019
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 SubmittersRCV000588483 RCV000631289 RCV002456285
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	Criteria Provided Conflicting Classifications	CA70049495	rs_5030833	3 SubmittersRCV000589290 RCV000767268
NM_000551.4(VHL):c.238A>C (p.Ser80Arg)	SNV Germline	Chr3:10142085	Pathogenic	Von Hippel-Lindau syndrome	Criteria Provided Single Submitter	CA16621913	rs_786202787	1 SubmittersRCV000590356
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 SubmittersRCV000588434 RCV004024678
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 SubmittersRCV000589476 RCV000631292
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 SubmittersRCV000590750 RCV002225684 RCV002530908
NM_000551.4(VHL):c.484T>C (p.Cys162Arg)	SNV Germline	Chr3:10149807	Pathogenic	Von Hippel-Lindau syndrome Von Hippel-Lindau syndrome Chuvash polycythemia	Criteria Provided Multiple Submitters No Conflicts	CA351756117	rs_1553620313	3 SubmittersRCV000587033 RCV001060967
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 SubmittersRCV000588324 RCV001044333 RCV005231141
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 SubmittersRCV001232610 RCV005240275
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 SubmittersRCV000587621 RCV000679038 RCV003767339
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 SubmittersRCV000615943 RCV005223047
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 SubmittersRCV000613129 RCV003767559
NM_000551.4(VHL):c.-10C>T	SNV Germline	Chr3:10141838	Conflicting classifications of pathogenicity	not specified Von Hippel-Lindau syndrome Nonpapillary renal cell carcinoma Pheochromocytoma Chuvash polycythemia Von Hippel-Lindau syndrome	Criteria Provided Conflicting Classifications	CA541213514	rs_1192379474	3 SubmittersRCV000609650 RCV002498924 RCV004802290
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 SubmittersRCV000631303 RCV002431859 RCV003497874
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 SubmittersRCV000631271 RCV001553666 RCV002448934
NM_000551.4(VHL):c.298A>G (p.Thr100Ala)	SNV Germline	Chr3:10142145	Conflicting classifications of pathogenicity	Von Hippel-Lindau syndrome Chuvash polycythemia Condition: not provided Hereditary cancer-predisposing syndrome Nonpapillary renal cell carcinoma Von Hippel-Lindau syndrome Chuvash polycythemia Pheochromocytoma Von Hippel-Lindau syndrome	Criteria Provided Conflicting Classifications	CA040192	rs_745901803	8 SubmittersRCV000631270 RCV000997987 RCV002255483 RCV002477380 RCV004788047
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	4 SubmittersRCV000631276 RCV000714168 RCV002334057 RCV004691263
NM_000551.4(VHL):c.291C>G (p.Pro97=)	SNV Germline	Chr3:10142138	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome Chuvash polycythemia Von Hippel-Lindau syndrome	Criteria Provided Conflicting Classifications	CA70046209	rs_1805159	4 SubmittersRCV002438649 RCV001143971 RCV000631295
NM_000551.4(VHL):c.575C>T (p.Pro192Leu)	SNV Germline	Chr3:10149898	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	CA351756444	rs_902694906	6 SubmittersRCV000631274 RCV000679044 RCV000767296 RCV002343200
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 SubmittersRCV000662755 RCV001230391 RCV001784228 RCV002422448
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 SubmittersRCV000679016 RCV002060844 RCV002256463 RCV001816688
NM_000551.4(VHL):c.-73C>T	SNV Germline	Chr3:10141775	Conflicting classifications of pathogenicity	Chuvash polycythemia Von Hippel-Lindau syndrome Pheochromocytoma Nonpapillary renal cell carcinoma Von Hippel-Lindau syndrome not specified	Criteria Provided Conflicting Classifications	CA70041962	rs_1034934219	5 SubmittersRCV000764456 RCV001148529 RCV001796976
NM_000551.4(VHL):c.341-4A>T	SNV Germline	Chr3:10146510	Conflicting classifications of pathogenicity	Condition: not provided Chuvash polycythemia Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome	Criteria Provided Conflicting Classifications	CA658822548	rs_1559428033	5 SubmittersRCV000679033 RCV001442130 RCV002458187 RCV005621014
NM_000551.4(VHL):c.3G>C (p.Met1Ile)	SNV Germline	Chr3:10141850	Conflicting classifications of pathogenicity	Von Hippel-Lindau syndrome Chuvash polycythemia Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome	Criteria Provided Conflicting Classifications	CA70042122	rs_578091032	3 SubmittersRCV000707210 RCV002369974 RCV004792421
NM_000551.4(VHL):c.217C>G (p.Gln73Glu)	SNV Germline	Chr3:10142064	Conflicting classifications of pathogenicity	Von Hippel-Lindau syndrome Chuvash polycythemia Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA70042515	rs_869025619	2 SubmittersRCV000686913 RCV002424590
NM_000551.4(VHL):c.264G>C (p.Trp88Cys)	SNV Germline	Chr3:10142111	Pathogenic	Von Hippel-Lindau syndrome Chuvash polycythemia	Criteria Provided Single Submitter	CA351750678	rs_869025622	1 SubmittersRCV000704506
NM_000551.4(VHL):c.340G>A (p.Gly114Ser)	SNV Germline	Chr3:10142187	Pathogenic	Von Hippel-Lindau syndrome Chuvash polycythemia Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA351751372	rs_869025636	2 SubmittersRCV000707336 RCV003353002
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	Criteria Provided Conflicting Classifications	CA891843323	rs_372340900	2 SubmittersRCV000688058 RCV005621015
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 SubmittersRCV000707189 RCV001759423
NM_000551.4(VHL):c.472C>G (p.Leu158Val)	SNV Germline	Chr3:10149795	Pathogenic	Von Hippel-Lindau syndrome Chuvash polycythemia Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA351756068	rs_1559429613	3 SubmittersRCV000688156 RCV001575396 RCV002334267
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.88G>A (p.Gly30Arg)	SNV Germline	Chr3:10141935	Conflicting classifications of pathogenicity	Von Hippel-Lindau syndrome Chuvash polycythemia Hereditary cancer-predisposing syndrome Condition: not provided Von Hippel-Lindau syndrome	Criteria Provided Conflicting Classifications	CA70042258	rs_913104799	4 SubmittersRCV000685906 RCV001018482 RCV002298738 RCV004802352
NM_000551.4(VHL):c.280G>T (p.Glu94Ter)	SNV Germline	Chr3:10142127	Pathogenic	Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome Von Hippel-Lindau syndrome Chuvash polycythemia	Criteria Provided Multiple Submitters No Conflicts	CA70046202	rs_5030829	3 SubmittersRCV000708631 RCV000767251 RCV001222557
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 SubmittersRCV000756901 RCV001855883 RCV002332535
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	Criteria Provided Multiple Submitters No Conflicts	CA351756154	rs_1352275281	4 SubmittersRCV000756902 RCV001023281 RCV001382402
NM_000551.4(VHL):c.188T>A (p.Leu63Gln)	SNV Germline	Chr3:10142035	Conflicting classifications of pathogenicity	Chuvash polycythemia Von Hippel-Lindau syndrome Von Hippel-Lindau syndrome	Criteria Provided Conflicting Classifications	CA351748753	rs_104893827	2 SubmittersRCV001037923 RCV000767232
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 SubmittersRCV000767234 RCV001046095 RCV002422648
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 SubmittersRCV000767236 RCV001855961
NM_000551.4(VHL):c.227T>A (p.Phe76Tyr)	SNV Germline	Chr3:10142074	Conflicting classifications of pathogenicity	Von Hippel-Lindau syndrome Chuvash polycythemia Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA351749231	rs_730882033	3 SubmittersRCV000767239 RCV005213385 RCV004027205
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 SubmittersRCV000767241 RCV001869052 RCV002260666
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 SubmittersRCV000767244 RCV001220559 RCV005512813
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 SubmittersRCV000767252 RCV002440591
NM_000551.4(VHL):c.294C>G (p.Tyr98Ter)	SNV Germline	Chr3:10142141	Pathogenic	Von Hippel-Lindau syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA16621910	rs_1559426115	2 SubmittersRCV000767254 RCV004723159
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	Criteria Provided Multiple Submitters No Conflicts	CA351753726	rs_1559428077	4 SubmittersRCV000767262 RCV000821822 RCV002458373
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 SubmittersRCV000767264 RCV001855962
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	Criteria Provided Conflicting Classifications	CA351754191	rs_773556807	2 SubmittersRCV000767271 RCV005286204
NM_000551.4(VHL):c.433C>T (p.Gln145Ter)	SNV Germline	Chr3:10146606	Pathogenic	Von Hippel-Lindau syndrome	Criteria Provided Single Submitter	CA351754219	rs_749704215	1 SubmittersRCV000767273
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 SubmittersRCV000767279 RCV005213386
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 Hereditary cancer-predisposing syndrome Condition: not provided Chuvash polycythemia Von Hippel-Lindau syndrome	Criteria Provided Multiple Submitters No Conflicts	CA351756195	rs_864321642	5 SubmittersRCV000767283 RCV002334429 RCV001701154 RCV002533922
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 SubmittersRCV000767289 RCV003279047
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	2 SubmittersRCV000767294 RCV002536595
NM_000551.4(VHL):c.642A>G (p.Ter214Trp)	SNV Germline	Chr3:10149965	Likely pathogenic	Von Hippel-Lindau syndrome	Criteria Provided Multiple Submitters No Conflicts	CA351756723	rs_1559430011	2 SubmittersRCV000767298
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 SubmittersRCV000780788 RCV001039507
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	Criteria Provided Multiple Submitters No Conflicts	CA351751359	rs_751232153	3 SubmittersRCV000780787 RCV001068352 RCV003307415
NM_000551.4(VHL):c.70G>A (p.Gly24Ser)	SNV Germline	Chr3:10141917	Conflicting classifications of pathogenicity	Von Hippel-Lindau syndrome Chuvash polycythemia Ovarian cancer	Criteria Provided Conflicting Classifications	CA351747411	rs_1438223626	2 SubmittersRCV000803089 RCV003153844
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 SubmittersRCV000803524 RCV002381760 RCV003238229 RCV004001665
NM_000551.4(VHL):c.265C>T (p.Leu89Phe)	SNV Germline	Chr3:10142112	Conflicting classifications of pathogenicity	Von Hippel-Lindau syndrome Chuvash polycythemia Hereditary cancer-predisposing syndrome Condition: not provided Von Hippel-Lindau syndrome not specified	Criteria Provided Conflicting Classifications	CA351750683	rs_1575922124	5 SubmittersRCV000807105 RCV003166260 RCV005623371 RCV004001694 RCV005432435
NM_000551.4(VHL):c.344A>G (p.His115Arg)	SNV Germline	Chr3:10146517	Pathogenic	Von Hippel-Lindau syndrome Chuvash polycythemia Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA70049376	rs_5030812	2 SubmittersRCV000822511 RCV003169035
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 SubmittersRCV000804483 RCV002336632
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 SubmittersRCV000815290 RCV001292677 RCV002345864 RCV005416425
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 SubmittersRCV000794955 RCV001020206 RCV001592972
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 SubmittersRCV000937631 RCV001395391 RCV002363426 RCV005621044
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 SubmittersRCV000987111 RCV001025239 RCV002550599
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 Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA896160296	rs_1346312258	9 SubmittersRCV001007626 RCV001238805 RCV003325984 RCV004588452 RCV005359743 RCV005298669
NM_000551.4(VHL):c.245G>A (p.Arg82His)	SNV Germline	Chr3:10142092	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome Chuvash polycythemia	Criteria Provided Conflicting Classifications	CA351750549	rs_794726890	2 SubmittersRCV001015609 RCV001219698
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	Criteria Provided Conflicting Classifications	CA351756230	rs_193922613	3 SubmittersRCV001023797 RCV001359453 RCV001536627
NM_000551.4(VHL):c.575C>G (p.Pro192Arg)	SNV Germline	Chr3:10149898	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome Chuvash polycythemia	Criteria Provided Conflicting Classifications	CA70052552	rs_902694906	2 SubmittersRCV001024492 RCV001294333
NM_000551.4(VHL):c.341-1G>A	SNV Germline	Chr3:10146513	Pathogenic	Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome Chuvash polycythemia	Criteria Provided Multiple Submitters No Conflicts	CA351753591	rs_1575927648	3 SubmittersRCV001020234 RCV003447574 RCV003467657
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	Von Hippel-Lindau syndrome Chuvash polycythemia Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA351747033	rs_1696114029	2 SubmittersRCV001071455 RCV004950253
NM_000551.4(VHL):c.21C>G (p.Asn7Lys)	SNV Germline	Chr3:10141868	Conflicting classifications of pathogenicity	Chuvash polycythemia Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA351747053	rs_1060503561	2 SubmittersRCV001053669 RCV004678922
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 SubmittersRCV001047363 RCV002355024
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 Nonpapillary renal cell carcinoma Chuvash polycythemia Pheochromocytoma	Criteria Provided Conflicting Classifications	CA351748282	rs_1480825246	3 SubmittersRCV001042972 RCV004031308 RCV005029601
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 SubmittersRCV001046725 RCV003307840
NM_000551.4(VHL):c.208G>C (p.Glu70Gln)	SNV Germline	Chr3:10142055	Likely pathogenic	Chuvash polycythemia Von Hippel-Lindau syndrome	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	Criteria Provided Conflicting Classifications	CA351750604	rs_1422271977	3 SubmittersRCV001043701 RCV002429599 RCV004570144
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 SubmittersRCV001063174 RCV004998628 RCV005298694
NM_000551.4(VHL):c.330C>G (p.His110Gln)	SNV Germline	Chr3:10142177	Conflicting classifications of pathogenicity	Von Hippel-Lindau syndrome Chuvash polycythemia Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA351751317	rs_1696140667	2 SubmittersRCV001071787 RCV005512904
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 SubmittersRCV001063276 RCV002290579 RCV003160518
NM_000551.4(VHL):c.599G>T (p.Arg200Leu)	SNV Germline	Chr3:10149922	Likely pathogenic	Von Hippel-Lindau syndrome Chuvash polycythemia	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 SubmittersRCV001092964 RCV002554860
NM_000551.4(VHL):c.*70C>T	SNV Germline	Chr3:10150035	Conflicting classifications of pathogenicity	Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome not specified VHL-related disorder Chuvash polycythemia Von Hippel-Lindau syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA70052740	rs_552290225	8 SubmittersRCV001145867 RCV002259085 RCV005419008 RCV004743300 RCV001512864 RCV001530804
NM_000551.4(VHL):c.362A>T (p.Asp121Val)	SNV Germline	Chr3:10146535	Likely pathogenic	Chuvash polycythemia Von Hippel-Lindau syndrome	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	Criteria Provided Conflicting Classifications	CA351747150	rs_1553619289	2 SubmittersRCV001210678 RCV002356899
NM_000551.4(VHL):c.149C>G (p.Ala50Gly)	SNV Germline	Chr3:10141996	Conflicting classifications of pathogenicity	Chuvash polycythemia Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA351748259	rs_766576246	2 SubmittersRCV001204260 RCV004678990
NM_000551.4(VHL):c.264G>A (p.Trp88Ter)	SNV Germline	Chr3:10142111	Pathogenic	Chuvash polycythemia Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA351750677	rs_869025622	2 SubmittersRCV001205532 RCV003163557
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 SubmittersRCV001205464 RCV004803562 RCV004950324
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 SubmittersRCV001218453 RCV002339573 RCV004803575
NM_000551.4(VHL):c.130G>C (p.Gly44Arg)	SNV Germline	Chr3:10141977	Conflicting classifications of pathogenicity	Chuvash polycythemia Von Hippel-Lindau syndrome Pheochromocytoma Chuvash polycythemia Von Hippel-Lindau syndrome Nonpapillary renal cell carcinoma Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA351748058	rs_1575921446	3 SubmittersRCV001233308 RCV002484277 RCV005512962
NM_000551.4(VHL):c.478G>C (p.Glu160Gln)	SNV Germline	Chr3:10149801	Conflicting classifications of pathogenicity	Chuvash polycythemia Von Hippel-Lindau syndrome Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA351756093	rs_1696354965	3 SubmittersRCV001231369 RCV002484264 RCV004951379
NM_000551.4(VHL):c.93G>C (p.Glu31Asp)	SNV Germline	Chr3:10141940	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 Von Hippel-Lindau syndrome	Criteria Provided Conflicting Classifications	CA351747611	rs_1438911242	5 SubmittersRCV001243676 RCV005036526 RCV004034759 RCV004803600
NM_000551.4(VHL):c.563T>G (p.Leu188Arg)	SNV Germline	Chr3:10149886	Likely pathogenic	Von Hippel-Lindau syndrome Chuvash polycythemia	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	Hereditary cancer-predisposing syndrome Chuvash polycythemia Von Hippel-Lindau syndrome	Criteria Provided Conflicting Classifications	CA70042374	rs_1056226386	3 SubmittersRCV002258187 RCV001300923
NM_000551.4(VHL):c.184G>C (p.Val62Leu)	SNV Germline	Chr3:10142031	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Chuvash polycythemia Von Hippel-Lindau syndrome	Criteria Provided Conflicting Classifications	CA351748731	rs_747861291	2 SubmittersRCV002411940 RCV001295524
NM_000551.4(VHL):c.295C>A (p.Pro99Thr)	SNV Germline	Chr3:10142142	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Chuvash polycythemia Von Hippel-Lindau syndrome	Criteria Provided Conflicting Classifications	CA351750899	rs_549807529	2 SubmittersRCV002437001 RCV001294550
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 SubmittersRCV001294956 RCV004803607
NM_000551.4(VHL):c.190C>A (p.Arg64Ser)	SNV Germline	Chr3:10142037	Likely pathogenic	Chuvash polycythemia Von Hippel-Lindau syndrome	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	Pheochromocytoma Chuvash polycythemia Von Hippel-Lindau syndrome	Criteria Provided Conflicting Classifications	CA896160287	rs_1054796088	2 SubmittersRCV001810030 RCV001323871
NM_000551.4(VHL):c.365C>T (p.Ala122Val)	SNV Germline	Chr3:10146538	Conflicting classifications of pathogenicity	Chuvash polycythemia Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA351753771	rs_1696261924	2 SubmittersRCV001327637 RCV002456464
NM_000551.4(VHL):c.446C>T (p.Ala149Val)	SNV Germline	Chr3:10146619	Likely pathogenic	Chuvash polycythemia Von Hippel-Lindau syndrome	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	Chuvash polycythemia Von Hippel-Lindau syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA351754415	rs_869025659	2 SubmittersRCV001323712 RCV001577162
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 Pheochromocytoma Nonpapillary renal cell carcinoma Chuvash polycythemia Von Hippel-Lindau syndrome	Criteria Provided Conflicting Classifications	CA351747563	rs_913104799	4 SubmittersRCV001351817 RCV002377495 RCV002486456 RCV004005245
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 SubmittersRCV001346919 RCV005513024
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 SubmittersRCV001338507 RCV002322272 RCV004005152
NM_000551.4(VHL):c.340+574A>T	SNV Germline	Chr3:10142761	Conflicting classifications of pathogenicity	Chuvash polycythemia Von Hippel-Lindau syndrome Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA70046634	rs_982745672	3 SubmittersRCV001344145 RCV004809566 RCV005513020
NM_000551.4(VHL):c.340+832T>C	SNV Germline	Chr3:10143019	Conflicting classifications of pathogenicity	Von Hippel-Lindau syndrome Chuvash polycythemia Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA1345067657	rs_1696165411	2 SubmittersRCV001348216 RCV003169706
NM_000551.4(VHL):c.593T>A (p.Leu198Gln)	SNV Germline	Chr3:10149916	Likely pathogenic	Chuvash polycythemia Von Hippel-Lindau syndrome Von Hippel-Lindau syndrome	Criteria Provided Multiple Submitters No Conflicts	CA351756548	rs_869025667	2 SubmittersRCV001377066 RCV005419106
NM_000551.4(VHL):c.239G>A (p.Ser80Asn)	SNV Germline	Chr3:10142086	Pathogenic/Likely pathogenic	Von Hippel-Lindau syndrome Chuvash polycythemia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA70046108	rs_5030805	2 SubmittersRCV001382228 RCV004590365
NM_000551.4(VHL):c.400G>T (p.Glu134Ter)	SNV Germline	Chr3:10146573	Pathogenic	Chuvash polycythemia Von Hippel-Lindau syndrome Von Hippel-Lindau syndrome	Criteria Provided Multiple Submitters No Conflicts	CA351753995	rs_2125128363	2 SubmittersRCV001381653 RCV005601773
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 SubmittersRCV001411728 RCV003160644 RCV005621101
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	Criteria Provided Conflicting Classifications	CA432421796	rs_1559428077	2 SubmittersRCV001430668 RCV004793489
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 SubmittersRCV001577269 RCV002359188 RCV003316842 RCV003771754
NM_000551.4(VHL):c.-45C>A	SNV Germline	Chr3:10141803	Conflicting classifications of pathogenicity	Condition: not provided VHL-related disorder Von Hippel-Lindau syndrome Chuvash polycythemia	Criteria Provided Conflicting Classifications	CA70041986	rs_372483939	3 SubmittersRCV001715376 RCV003968507 RCV003771863
NM_000551.4(VHL):c.244C>G (p.Arg82Gly)	SNV Germline	Chr3:10142091	Pathogenic	Von Hippel-Lindau syndrome Chuvash polycythemia Von Hippel-Lindau syndrome	Criteria Provided Single Submitter	CA351750544	rs_1214305423	2 SubmittersRCV001724795 RCV003771867
NM_000551.4(VHL):c.242C>A (p.Pro81Gln)	SNV Germline	Chr3:10142089	Conflicting classifications of pathogenicity	Condition: not provided Chuvash polycythemia Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA351750529	rs_193922608	3 SubmittersRCV001771461 RCV001868619 RCV004040282
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.284C>G (p.Pro95Arg)	SNV Germline	Chr3:10142131	Likely pathogenic	Von Hippel-Lindau syndrome	No Assertion Criteria Provided	CA351750809	rs_964996401	1 SubmittersRCV001786528
NM_000551.4(VHL):c.131G>C (p.Gly44Ala)	SNV Germline	Chr3:10141978	Conflicting classifications of pathogenicity	Chuvash polycythemia Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA351748061	rs_1056226386	2 SubmittersRCV002021926 RCV004946976
NM_000551.4(VHL):c.193T>A (p.Ser65Thr)	SNV Germline	Chr3:10142040	Pathogenic	Chuvash polycythemia Von Hippel-Lindau syndrome	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	Chuvash polycythemia Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA645525016	rs_1131690954	2 SubmittersRCV001999191 RCV002337111
NM_000551.4(VHL):c.391A>T (p.Asn131Tyr)	SNV Germline	Chr3:10146564	Likely pathogenic	Chuvash polycythemia Von Hippel-Lindau syndrome	Criteria Provided Single Submitter	CA351753934	rs_2125128340	1 SubmittersRCV002034406
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	Criteria Provided Conflicting Classifications	CA351748241	rs_1696124466	2 SubmittersRCV002050011 RCV005513108
NM_000551.4(VHL):c.463+1G>T	SNV Germline	Chr3:10146637	Pathogenic	Hereditary cancer-predisposing syndrome Chuvash polycythemia Von Hippel-Lindau syndrome Von Hippel-Lindau syndrome	Criteria Provided Multiple Submitters No Conflicts	CA16621935	rs_869025657	3 SubmittersRCV002331532 RCV001972698 RCV004044390
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 SubmittersRCV001979981 RCV004946927
NM_000551.4(VHL):c.37G>C (p.Val13Leu)	SNV Germline	Chr3:10141884	Conflicting classifications of pathogenicity	Chuvash polycythemia Von Hippel-Lindau syndrome Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA351747145	rs_919338576	3 SubmittersRCV001927607 RCV004804288 RCV005298922
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 SubmittersRCV001988653 RCV003464363
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 SubmittersRCV001886409 RCV005298913
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 SubmittersRCV002007406 RCV003329425 RCV004728985
NM_000551.4(VHL):c.553T>A (p.Tyr185Asn)	SNV Germline	Chr3:10149876	Conflicting classifications of pathogenicity	Chuvash polycythemia Von Hippel-Lindau syndrome Von Hippel-Lindau syndrome Chuvash polycythemia Chuvash polycythemia Nonpapillary renal cell carcinoma Pheochromocytoma Von Hippel-Lindau syndrome	Criteria Provided Conflicting Classifications	CA041587	rs_768390987	4 SubmittersRCV001905552 RCV004785360 RCV003470996 RCV005038435
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 Von Hippel-Lindau syndrome Nonpapillary renal cell carcinoma Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA351747388	rs_1696118253	3 SubmittersRCV002001124 RCV005032064 RCV004946996
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 SubmittersRCV001961707 RCV004946953
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 SubmittersRCV001882271 RCV004041460
NM_000551.4(VHL):c.308C>T (p.Pro103Leu)	SNV Germline	Chr3:10142155	Conflicting classifications of pathogenicity	Chuvash polycythemia Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA351751083	rs_2125125299	2 SubmittersRCV001988554 RCV002324453
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 SubmittersRCV002292084 RCV002416559 RCV004005595
NM_000551.4(VHL):c.388G>A (p.Val130Ile)	SNV Germline	Chr3:10146561	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Chuvash polycythemia Von Hippel-Lindau syndrome	Criteria Provided Conflicting Classifications	CA351753916	rs_104893830	3 SubmittersRCV002357396 RCV005232954 RCV003102470
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 SubmittersRCV002321463 RCV003775806
NM_000551.4(VHL):c.335A>C (p.Tyr112Ser)	SNV Germline	Chr3:10142182	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Chuvash polycythemia Von Hippel-Lindau syndrome	Criteria Provided Conflicting Classifications	CA351751356	rs_869025633	2 SubmittersRCV002321045 RCV005213662
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 SubmittersRCV002330407 RCV005601897
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	Criteria Provided Conflicting Classifications	CA351756131	rs_1553620318	2 SubmittersRCV002340459 RCV003775986
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 SubmittersRCV002353321 RCV003103239
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	Criteria Provided Conflicting Classifications	CA039757	rs_769658318	2 SubmittersRCV002417451 RCV003101012
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 SubmittersRCV002417119 RCV005621196
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 SubmittersRCV002435999 RCV003455513
NM_000551.4(VHL):c.176C>T (p.Pro59Leu)	SNV Germline	Chr3:10142023	Conflicting classifications of pathogenicity	Von Hippel-Lindau syndrome Chuvash polycythemia Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA351748662	rs_1696126408	2 SubmittersRCV003092741 RCV004948980
NM_000551.4(VHL):c.361G>A (p.Asp121Asn)	SNV Germline	Chr3:10146534	Pathogenic	Von Hippel-Lindau syndrome Chuvash polycythemia	Criteria Provided Single Submitter	CA351753750	rs_2125128261	1 SubmittersRCV002651639
NM_000551.4(VHL):c.464T>G (p.Val155Gly)	SNV Germline	Chr3:10149787	Likely pathogenic	Von Hippel-Lindau syndrome Chuvash polycythemia	Criteria Provided Single Submitter	CA16621938	rs_2125130449	1 SubmittersRCV002651640
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	Von Hippel-Lindau syndrome Chuvash polycythemia Von Hippel-Lindau syndrome	Criteria Provided Multiple Submitters No Conflicts	CA351753586	rs_869025637	2 SubmittersRCV002877178 RCV003455591
NM_000551.4(VHL):c.161T>G (p.Met54Arg)	SNV Germline	Chr3:10142008	Likely pathogenic	Von Hippel-Lindau syndrome Chuvash polycythemia	Criteria Provided Single Submitter	CA351748469	rs_1575921544	1 SubmittersRCV002908478
NM_000551.4(VHL):c.349T>C (p.Trp117Arg)	SNV Germline	Chr3:10146522	Pathogenic	Chuvash polycythemia Von Hippel-Lindau syndrome	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 SubmittersRCV003017988 RCV003465888 RCV005288874 RCV003317638
NM_000551.4(VHL):c.188T>G (p.Leu63Arg)	SNV Germline	Chr3:10142035	Likely pathogenic	Hereditary cancer-predisposing syndrome Chuvash polycythemia Von Hippel-Lindau syndrome	Criteria Provided Multiple Submitters No Conflicts	CA351748749	rs_104893827	2 SubmittersRCV003300745 RCV005216033
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 SubmittersRCV003332732 RCV005621245
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	Criteria Provided Single Submitter	CA351753597	rs_1575927648	1 SubmittersRCV003452624
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	Von Hippel-Lindau syndrome Chuvash polycythemia	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	Chuvash polycythemia Von Hippel-Lindau syndrome	Criteria Provided Single Submitter	CA351749164	rs_2125125032	1 SubmittersRCV003813709
NM_000551.4(VHL):c.640T>C (p.Ter214Arg)	SNV Germline	Chr3:10149963	Likely pathogenic	Chuvash polycythemia Von Hippel-Lindau syndrome	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	2 SubmittersRCV004440400 RCV004440401
NM_000551.4(VHL):c.-10C>G	SNV Germline	Chr3:10141838	Conflicting classifications of pathogenicity	Von Hippel-Lindau syndrome	Criteria Provided Conflicting Classifications			2 SubmittersRCV004802869
NM_000551.4(VHL):c.597G>C (p.Glu199Asp)	SNV Germline	Chr3:10149920	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Chuvash polycythemia Von Hippel-Lindau syndrome	Criteria Provided Conflicting Classifications			2 SubmittersRCV004950916 RCV005218380
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	Chuvash polycythemia Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications			2 SubmittersRCV005212007 RCV005303531
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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA020473

rs_5030823

6 SubmittersRCV000002299 RCV000208867 RCV000703889 RCV003162205

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

19 SubmittersRCV000002300 RCV000325074 RCV000213850 RCV000627745 RCV003448242 RCV004760317

NM_000551.4(VHL):c.481C>T (p.Arg161Ter)

SNV
Germline

Chr3:10149804

Pathogenic

Von Hippel-Lindau syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Familial infantile myasthenia
Von Hippel-Lindau syndrome
Chuvash polycythemia

Criteria Provided
Multiple Submitters
No Conflicts

CA020408

rs_5030818

12 SubmittersRCV000002301 RCV000161091 RCV000492225 RCV001280922 RCV000791367

NM_000551.4(VHL):c.499C>T (p.Arg167Trp)

SNV
Germline

Chr3:10149822

Pathogenic/Likely pathogenic

Pheochromocytoma
Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Von Hippel-Lindau syndrome
Chuvash polycythemia
Von Hippel-Lindau syndrome
Nonpapillary renal cell carcinoma
Chuvash polycythemia
Pheochromocytoma
Chuvash polycythemia

Criteria Provided
Multiple Submitters
No Conflicts

CA020450

rs_5030820

18 SubmittersRCV000002303 RCV000002302 RCV000132159 RCV000213079 RCV000627746 RCV000763092 RCV003992144

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 SubmittersRCV000002304 RCV000466046 RCV002336073

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

Von Hippel-Lindau syndrome
Von Hippel-Lindau syndrome
Chuvash polycythemia
VHL-related disorder
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA020277

rs_104893824

6 SubmittersRCV000002308 RCV000698407 RCV003407257 RCV002321468

NM_000551.4(VHL):c.292T>C (p.Tyr98His)

SNV
Germline

Chr3:10142139

Pathogenic

Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Von Hippel-Lindau syndrome
Chuvash polycythemia
VHL-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA020246

rs_5030809

15 SubmittersRCV000002309 RCV000492094 RCV000679029 RCV000684783 RCV003891425

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 SubmittersRCV000002310 RCV000220823 RCV001851578 RCV002288459

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 SubmittersRCV000002314 RCV000132356 RCV000208872 RCV000475973 RCV000679019

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 SubmittersRCV000002316 RCV005222659

NM_000551.4(VHL):c.388G>C (p.Val130Leu)

SNV
Germline

Chr3:10146561

Pathogenic

Chuvash polycythemia
Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
Chuvash polycythemia
Von Hippel-Lindau syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA020325

rs_104893830

5 SubmittersRCV000002317 RCV000030586 RCV000492250 RCV001071915

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 SubmittersRCV000002318 RCV001236092

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 SubmittersRCV000002319 RCV001231697 RCV003298026 RCV004018540

NM_000551.4(VHL):c.598C>T (p.Arg200Trp)

SNV
Germline

Chr3:10149921

Conflicting classifications of pathogenicity

Chuvash polycythemia
not specified
Von Hippel-Lindau syndrome
Condition: not provided
Acute leukemia of ambiguous lineage
Hereditary cancer-predisposing syndrome
Von Hippel-Lindau syndrome
Chuvash polycythemia
VHL-related disorder
Nonpapillary renal cell carcinoma
Von Hippel-Lindau syndrome
Pheochromocytoma
Chuvash polycythemia
Nonpapillary renal cell carcinoma

Criteria Provided
Conflicting Classifications

CA020510

rs_28940298

24 SubmittersRCV000002320 RCV000122262 RCV000148922 RCV000161094 RCV000722031 RCV000574264 RCV000627742 RCV004742206 RCV002247239 RCV005024991

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
Von Hippel-Lindau syndrome
Nonpapillary renal cell carcinoma
Chuvash polycythemia
Pheochromocytoma
Hereditary cancer-predisposing syndrome
Von Hippel-Lindau syndrome

Criteria Provided
Conflicting Classifications

CA020501

rs_28940300

8 SubmittersRCV000002322 RCV000236065 RCV000704063 RCV002490296 RCV001024480 RCV003996075

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 SubmittersRCV000002323 RCV001219111

NM_000551.4(VHL):c.250G>T (p.Val84Leu)

SNV
Germline

Chr3:10142097

Pathogenic

Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
Von Hippel-Lindau syndrome
Chuvash polycythemia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA020170

rs_5030827

6 SubmittersRCV000002324 RCV002433440 RCV001851579 RCV003884333

NM_000551.4(VHL):c.277G>A (p.Gly93Ser)

SNV
Germline

Chr3:10142124

Pathogenic

Pheochromocytoma
Von Hippel-Lindau syndrome
Von Hippel-Lindau syndrome
Chuvash polycythemia
Hereditary cancer-predisposing syndrome
Condition: not provided
Chuvash polycythemia

Criteria Provided
Multiple Submitters
No Conflicts

CA020230

rs_5030808

7 SubmittersRCV000002325 RCV000208813 RCV000698471 RCV002433441 RCV004998072 RCV003460405

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 SubmittersRCV000002326 RCV001052383 RCV001023261

NM_003000.3(SDHB):c.268C>T (p.Arg90Ter)

SNV
Germline

Chr1:17033078

Pathogenic

Pheochromocytoma/paraganglioma syndrome 4
Hereditary cancer-predisposing syndrome
Hereditary pheochromocytoma-paraganglioma
Condition: not provided
Pheochromocytoma
Pheochromocytoma/paraganglioma syndrome 4
Gastrointestinal stromal tumor
Pheochromocytoma
Pheochromocytoma/paraganglioma syndrome 4
Carney-Stratakis syndrome
Von Hippel-Lindau syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA015643

rs_74315366

16 SubmittersRCV000013616 RCV000215883 RCV000037718 RCV000183211 RCV000627749 RCV000763272 RCV003233026

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

Criteria Provided
Multiple Submitters
No Conflicts

CA020154

rs_193922608

11 SubmittersRCV000030582 RCV000129974 RCV001034657 RCV001547784 RCV003460493

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
Chuvash polycythemia
Von Hippel-Lindau syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA020262

rs_193922609

5 SubmittersRCV000030583 RCV000486047 RCV000492682 RCV000816283

NM_000551.4(VHL):c.371C>T (p.Thr124Ile)

SNV
Germline

Chr3:10146544

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Chuvash polycythemia
Von Hippel-Lindau syndrome
Hereditary pheochromocytoma-paraganglioma
Chuvash polycythemia
Von Hippel-Lindau syndrome
Nonpapillary renal cell carcinoma
Pheochromocytoma

Criteria Provided
Multiple Submitters
No Conflicts

CA020308

rs_193922610

5 SubmittersRCV000679036 RCV004678597 RCV005222710 RCV005237435 RCV005394178

NM_000551.4(VHL):c.458T>A (p.Leu153Gln)

SNV
Germline

Chr3:10146631

Conflicting classifications of pathogenicity

Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA020365

rs_193922611

2 SubmittersRCV000030587 RCV001022748

NM_000551.4(VHL):c.524A>G (p.Tyr175Cys)

SNV
Germline

Chr3:10149847

Pathogenic/Likely pathogenic

Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
Chuvash polycythemia
Von Hippel-Lindau syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA020462

rs_193922613

4 SubmittersRCV000030589 RCV000492408 RCV000533687 RCV004700288

NM_000551.4(VHL):c.194C>G (p.Ser65Trp)

SNV
Germline

Chr3:10142041

Pathogenic

Von Hippel-Lindau syndrome
Condition: not provided
Chuvash polycythemia
Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA020099

rs_5030826

11 SubmittersRCV000036539 RCV000497340 RCV001219547 RCV002415465

NM_000551.4(VHL):c.208G>A (p.Glu70Lys)

SNV
Germline

Chr3:10142055

Pathogenic/Likely pathogenic

Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
Chuvash polycythemia
Von Hippel-Lindau syndrome
Chuvash polycythemia
Von Hippel-Lindau syndrome
Nonpapillary renal cell carcinoma
Pheochromocytoma

Criteria Provided
Multiple Submitters
No Conflicts

CA020108

rs_5030802

9 SubmittersRCV000036540 RCV000492137 RCV001379599 RCV005394221

NM_000551.4(VHL):c.319C>G (p.Arg107Gly)

SNV
Germline

Chr3:10142166

Pathogenic/Likely pathogenic

Von Hippel-Lindau syndrome
Nonpapillary renal cell carcinoma
Chuvash polycythemia
Von Hippel-Lindau syndrome
Pheochromocytoma
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA020257

rs_397516440

3 SubmittersRCV000036542 RCV000763091 RCV002321506

NM_000551.4(VHL):c.467A>G (p.Tyr156Cys)

SNV
Germline

Chr3:10149790

Pathogenic

Von Hippel-Lindau syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Chuvash polycythemia
Von Hippel-Lindau syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA020394

rs_397516441

6 SubmittersRCV000036543 RCV000487045 RCV000492752 RCV000631280

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
Chuvash polycythemia
Von Hippel-Lindau syndrome
Nonpapillary renal cell carcinoma
Chuvash polycythemia
Von Hippel-Lindau syndrome
Pheochromocytoma
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA020389

rs_5030817

6 SubmittersRCV000036546 RCV000724861 RCV001067480 RCV005031474 RCV004948143

NM_000551.4(VHL):c.485G>T (p.Cys162Phe)

SNV
Germline

Chr3:10149808

Pathogenic

Von Hippel-Lindau syndrome
Chuvash polycythemia
Von Hippel-Lindau syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA020418

rs_397516444

5 SubmittersRCV000036548 RCV002513389

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 SubmittersRCV000036549 RCV001023359 RCV001701727

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
Chuvash polycythemia
Von Hippel-Lindau syndrome

Reviewed By Expert Panel

CA020131

rs_5030804

12 SubmittersRCV000079207 RCV000254892 RCV000492165 RCV001034687

NM_000551.4(VHL):c.256C>G (p.Pro86Ala)

SNV
Germline

Chr3:10142103

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

CA020174

rs_398123481

5 SubmittersRCV000079208 RCV000723702 RCV001227827 RCV004686575

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 SubmittersRCV000079209 RCV000767256 RCV002321574

NM_000551.4(VHL):c.629G>A (p.Arg210Gln)

SNV
Germline

Chr3:10149952

Conflicting classifications of pathogenicity

Condition: not provided
Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
Chuvash polycythemia
Von Hippel-Lindau syndrome
not specified
VHL-related disorder

Criteria Provided
Conflicting Classifications

CA020530

rs_138780791

11 SubmittersRCV000115743 RCV000119153 RCV000492305 RCV000627744 RCV002267856 RCV003935103

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 SubmittersRCV000115746 RCV000208783 RCV000492260 RCV001854559

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
Condition: not provided
Hereditary cancer-predisposing syndrome
Chuvash polycythemia
Nonpapillary renal cell carcinoma
Pheochromocytoma
Von Hippel-Lindau syndrome

Criteria Provided
Conflicting Classifications

CA020331

rs_578091032

13 SubmittersRCV000122260 RCV000409700 RCV000467198 RCV000657025 RCV000492595 RCV002483231

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 SubmittersRCV000122261 RCV001038969 RCV003162559

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

10 SubmittersRCV000123104 RCV000524493 RCV001657771 RCV002426672 RCV003460872 RCV004742271

NM_000551.4(VHL):c.274G>T (p.Asp92Tyr)

SNV
Germline

Chr3:10142121

Conflicting classifications of pathogenicity

Von Hippel-Lindau syndrome
Chuvash polycythemia
Hereditary cancer-predisposing syndrome
Von Hippel-Lindau syndrome
Von Hippel-Lindau syndrome
Chuvash polycythemia
Pheochromocytoma
Nonpapillary renal cell carcinoma

Criteria Provided
Conflicting Classifications

CA020217

rs_587780731

5 SubmittersRCV000123105 RCV001016495 RCV004786385 RCV005025201

NM_000551.4(VHL):c.-35G>A

SNV
Germline

Chr3:10141813

Conflicting classifications of pathogenicity

Von Hippel-Lindau syndrome
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA020304

rs_587780992

4 SubmittersRCV001148530 RCV000126299 RCV000679009

NM_000551.4(VHL):c.256C>T (p.Pro86Ser)

SNV
Germline

Chr3:10142103

Pathogenic/Likely pathogenic

Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Chuvash polycythemia
Von Hippel-Lindau syndrome
Chuvash polycythemia

Criteria Provided
Multiple Submitters
No Conflicts

CA020180

rs_398123481

7 SubmittersRCV000155449 RCV000492763 RCV000413630 RCV001059327 RCV004813063

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 SubmittersRCV000154124 RCV000723964 RCV001020510

NM_000551.4(VHL):c.-5A>C

SNV
Germline

Chr3:10141843

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Von Hippel-Lindau syndrome
Von Hippel-Lindau syndrome
Chuvash polycythemia

Criteria Provided
Conflicting Classifications

CA020514

rs_35793832

8 SubmittersRCV000566000 RCV000679011 RCV001818360 RCV003998532 RCV002053943

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
Nonpapillary renal cell carcinoma
Von Hippel-Lindau syndrome
Chuvash polycythemia
Nonpapillary renal cell carcinoma
Pheochromocytoma
Von Hippel-Lindau syndrome

Criteria Provided
Conflicting Classifications

CA020518

rs_111246617

14 SubmittersRCV000161089 RCV000168429 RCV000294881 RCV000492422 RCV000781920 RCV003416030 RCV005359388 RCV005025251

NM_000551.4(VHL):c.194C>T (p.Ser65Leu)

SNV
Germline

Chr3:10142041

Pathogenic

Pancreatic cysts
Retinal capillary hemangioma
Spinal hemangioblastoma
Cerebellar hemangioblastoma
Von Hippel-Lindau syndrome
Chuvash polycythemia
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA020104

rs_5030826

4 SubmittersRCV000626711 RCV001389259 RCV004948200

NM_000551.4(VHL):c.257C>T (p.Pro86Leu)

SNV
Germline

Chr3:10142104

Pathogenic

Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
Von Hippel-Lindau syndrome
Chuvash polycythemia

Reviewed By Expert Panel

CA020186

rs_730882034

6 SubmittersRCV000208836 RCV000492524 RCV001382230

NM_000551.4(VHL):c.263G>A (p.Trp88Ter)

SNV
Germline

Chr3:10142110

Pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Von Hippel-Lindau syndrome
Chuvash polycythemia
Von Hippel-Lindau syndrome

Reviewed By Expert Panel

CA020197

rs_119103277

8 SubmittersRCV000161086 RCV000492395 RCV000208798 RCV001382231

NM_000551.4(VHL):c.266T>C (p.Leu89Pro)

SNV
Germline

Chr3:10142113

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Von Hippel-Lindau syndrome
Von Hippel-Lindau syndrome
Chuvash polycythemia

Criteria Provided
Multiple Submitters
No Conflicts

CA020207

rs_5030807

5 SubmittersRCV000161087 RCV000208869 RCV000817709

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
Von Hippel-Lindau syndrome
Chuvash polycythemia

Criteria Provided
Multiple Submitters
No Conflicts

CA020399

rs_121913346

5 SubmittersRCV000161088 RCV000208846 RCV000492547 RCV001072084

NM_000551.4(VHL):c.482G>A (p.Arg161Gln)

SNV
Germline

Chr3:10149805

Pathogenic

Chuvash polycythemia
Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Von Hippel-Lindau syndrome
Chuvash polycythemia
Pheochromocytoma
Nonpapillary renal cell carcinoma
Von Hippel-Lindau syndrome
VHL-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA020413

rs_730882035

11 SubmittersRCV000456958 RCV000563066 RCV000161092 RCV000208848 RCV005394565 RCV004742286

NM_000551.4(VHL):c.525C>G (p.Tyr175Ter)

SNV
Germline

Chr3:10149848

Pathogenic

Von Hippel-Lindau syndrome
Von Hippel-Lindau syndrome
Chuvash polycythemia

Criteria Provided
Multiple Submitters
No Conflicts

CA020466

rs_5030835

2 SubmittersRCV000549585 RCV001388392

NM_000551.4(VHL):c.572A>C (p.His191Pro)

SNV
Germline

Chr3:10149895

Conflicting classifications of pathogenicity

Condition: not provided
Von Hippel-Lindau syndrome
Chuvash polycythemia
Hereditary cancer-predisposing syndrome
Chuvash polycythemia

Criteria Provided
Conflicting Classifications

CA020500

rs_370050374

4 SubmittersRCV000161093 RCV000200136 RCV002345555 RCV003462112

NM_000551.4(VHL):c.631A>C (p.Met211Leu)

SNV
Germline

Chr3:10149954

Conflicting classifications of pathogenicity

not specified
Von Hippel-Lindau syndrome
Von Hippel-Lindau syndrome
Chuvash polycythemia
Hereditary cancer-predisposing syndrome
Condition: not provided
VHL-related disorder

Criteria Provided
Conflicting Classifications

CA020534

rs_200019083

13 SubmittersRCV000161101 RCV000287076 RCV000541199 RCV001025130 RCV001704152 RCV004742287

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
Chuvash polycythemia
Condition: not provided
Nonpapillary renal cell carcinoma
Pheochromocytoma
Chuvash polycythemia
Von Hippel-Lindau syndrome

Criteria Provided
Conflicting Classifications

CA020113

rs_786202857

5 SubmittersRCV000165891 RCV000227354 RCV003462191 RCV001545934 RCV005025264

NM_000551.4(VHL):c.238A>G (p.Ser80Gly)

SNV
Germline

Chr3:10142085

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Von Hippel-Lindau syndrome
Chuvash polycythemia
Von Hippel-Lindau syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA020142

rs_786202787

4 SubmittersRCV000165774 RCV002307423 RCV001388793

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
Nonpapillary renal cell carcinoma
Pheochromocytoma
Von Hippel-Lindau syndrome
VHL-related disorder
Chuvash polycythemia

Criteria Provided
Conflicting Classifications

CA020224

rs_749091984

9 SubmittersRCV000163954 RCV000412307 RCV000525495 RCV000679028 RCV002485013 RCV003389706 RCV003462123

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 SubmittersRCV000173161 RCV000724457

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 SubmittersRCV000177084 RCV000724622 RCV003765094

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 SubmittersRCV001317982 RCV003462331 RCV004020464

NM_000551.4(VHL):c.293A>C (p.Tyr98Ser)

SNV
Germline

Chr3:10142140

Pathogenic/Likely pathogenic

Von Hippel-Lindau syndrome
Pheochromocytoma
Hereditary cancer-predisposing syndrome
Chuvash polycythemia
Von Hippel-Lindau syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA279916

rs_864321643

5 SubmittersRCV000208847 RCV000203508 RCV002433899 RCV001064921 RCV004721296

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 SubmittersRCV001018501 RCV001370713

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 SubmittersRCV000204667 RCV004948213

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

Criteria Provided
Multiple Submitters
No Conflicts

CA348491

rs_5030810

3 SubmittersRCV000204250 RCV000456132 RCV003165497

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
Pheochromocytoma
Von Hippel-Lindau syndrome
Nonpapillary renal cell carcinoma

Criteria Provided
Conflicting Classifications

CA041490

rs_778205243

9 SubmittersRCV000204757 RCV000235376 RCV000663322 RCV001024120 RCV004567477 RCV005031779

NM_000551.4(VHL):c.628C>T (p.Arg210Trp)

SNV
Germline

Chr3:10149951

Conflicting classifications of pathogenicity

Von Hippel-Lindau syndrome
Chuvash polycythemia
Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Maffucci syndrome
Chuvash polycythemia
not specified
Von Hippel-Lindau syndrome
Pheochromocytoma
Nonpapillary renal cell carcinoma
Chuvash polycythemia

Criteria Provided
Conflicting Classifications

CA041992

rs_774380450

10 SubmittersRCV000204248 RCV000662950 RCV000568942 RCV001582712 RCV002467673 RCV003468958 RCV005230083 RCV005031778

NM_000551.4(VHL):c.193T>G (p.Ser65Ala)

SNV
Germline

Chr3:10142040

Likely pathogenic

Von Hippel-Lindau syndrome

No Assertion Criteria Provided

CA357048

rs_869025616

1 SubmittersRCV000208812

NM_000551.4(VHL):c.194C>A (p.Ser65Ter)

SNV
Germline

Chr3:10142041

Pathogenic

Von Hippel-Lindau syndrome
Condition: not provided
Von Hippel-Lindau syndrome
Chuvash polycythemia
Chuvash polycythemia

Criteria Provided
Multiple Submitters
No Conflicts

CA357085

rs_5030826

5 SubmittersRCV000208831 RCV003233497 RCV001213116 RCV002509303

NM_000551.4(VHL):c.203C>A (p.Ser68Ter)

SNV
Germline

Chr3:10142050

Pathogenic

Von Hippel-Lindau syndrome
Von Hippel-Lindau syndrome
Chuvash polycythemia
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA357051

rs_869025617

3 SubmittersRCV000208815 RCV001389820 RCV004948217

NM_000551.4(VHL):c.214T>C (p.Ser72Pro)

SNV
Germline

Chr3:10142061

Pathogenic/Likely pathogenic

Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
Von Hippel-Lindau syndrome
Chuvash polycythemia

Criteria Provided
Multiple Submitters
No Conflicts

CA357006

rs_869025618

4 SubmittersRCV000208787 RCV000492124 RCV001382227

NM_000551.4(VHL):c.217C>T (p.Gln73Ter)

SNV
Germline

Chr3:10142064

Pathogenic

Von Hippel-Lindau syndrome
Condition: not provided
Von Hippel-Lindau syndrome
Chuvash polycythemia

Criteria Provided
Multiple Submitters
No Conflicts

CA357036

rs_869025619

3 SubmittersRCV000208804 RCV000679022 RCV001218191

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 SubmittersRCV000208818 RCV000568344

NM_000551.4(VHL):c.233A>C (p.Asn78Thr)

SNV
Germline

Chr3:10142080

Pathogenic

Von Hippel-Lindau syndrome
Condition: not provided
Von Hippel-Lindau syndrome
Chuvash polycythemia

Criteria Provided
Multiple Submitters
No Conflicts

CA357095

rs_5030804

3 SubmittersRCV000208838 RCV000679024 RCV000805326

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 SubmittersRCV000208821 RCV000803184

NM_000551.4(VHL):c.257C>G (p.Pro86Arg)

SNV
Germline

Chr3:10142104

Pathogenic/Likely pathogenic

Von Hippel-Lindau syndrome
Von Hippel-Lindau syndrome
Chuvash polycythemia
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA357142

rs_730882034

7 SubmittersRCV000208868 RCV000631258 RCV002426981 RCV003237772

NM_000551.4(VHL):c.264G>T (p.Trp88Cys)

SNV
Germline

Chr3:10142111

Likely pathogenic

Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
Von Hippel-Lindau syndrome
Chuvash polycythemia

Reviewed By Expert Panel

CA357078

rs_869025622

5 SubmittersRCV000208827 RCV000492552 RCV000537014

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 SubmittersRCV000208809 RCV002426982

NM_000551.4(VHL):c.277G>C (p.Gly93Arg)

SNV
Germline

Chr3:10142124

Likely pathogenic

Von Hippel-Lindau syndrome
Von Hippel-Lindau syndrome
Chuvash polycythemia
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA357130

rs_5030808

3 SubmittersRCV000208861 RCV001035237 RCV002433917

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
Von Hippel-Lindau syndrome
Chuvash polycythemia

Criteria Provided
Single Submitter

CA357072

rs_864321643

4 SubmittersRCV000208825 RCV001357107 RCV001218807

NM_000551.4(VHL):c.311G>T (p.Gly104Val)

SNV
Germline

Chr3:10142158

Conflicting classifications of pathogenicity

Von Hippel-Lindau syndrome
Von Hippel-Lindau syndrome
Chuvash polycythemia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA357033

rs_869025630

6 SubmittersRCV000208803 RCV005222830 RCV000679030

NM_000551.4(VHL):c.320G>A (p.Arg107His)

SNV
Germline

Chr3:10142167

Pathogenic

Von Hippel-Lindau syndrome
VHL-related disorder
Hereditary cancer-predisposing syndrome
Von Hippel-Lindau syndrome
Chuvash polycythemia

Criteria Provided
Multiple Submitters
No Conflicts

CA357135

rs_193922609

4 SubmittersRCV000208864 RCV003897458 RCV000492448 RCV001379601

NM_000551.4(VHL):c.332G>A (p.Ser111Asn)

SNV
Germline

Chr3:10142179

Pathogenic

Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
Von Hippel-Lindau syndrome
Chuvash polycythemia

Criteria Provided
Multiple Submitters
No Conflicts

CA357091

rs_869025631

4 SubmittersRCV000208834 RCV000492721 RCV002517414

NM_000551.4(VHL):c.333C>G (p.Ser111Arg)

SNV
Germline

Chr3:10142180

Pathogenic

Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
Von Hippel-Lindau syndrome
Chuvash polycythemia

Criteria Provided
Multiple Submitters
No Conflicts

CA040305

rs_765978945

3 SubmittersRCV000208866 RCV000492675 RCV001204150

NM_000551.4(VHL):c.335A>G (p.Tyr112Cys)

SNV
Germline

Chr3:10142182

Conflicting classifications of pathogenicity

Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
Chuvash polycythemia
Von Hippel-Lindau syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA357115

rs_869025633

5 SubmittersRCV000208852 RCV000219736 RCV000631262 RCV001289414

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 SubmittersRCV000208843 RCV003765349 RCV005512713

NM_000551.4(VHL):c.340+1G>A

SNV
Germline

Chr3:10142188

Pathogenic

Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Von Hippel-Lindau syndrome
Chuvash polycythemia

Criteria Provided
Multiple Submitters
No Conflicts

CA357042

rs_730882032

5 SubmittersRCV000208808 RCV004020566 RCV001701877 RCV001044454

NM_000551.4(VHL):c.341-2A>G

SNV
Germline

Chr3:10146512

Pathogenic

Von Hippel-Lindau syndrome
Von Hippel-Lindau syndrome
Chuvash polycythemia

Reviewed By Expert Panel

CA357004

rs_869025637

4 SubmittersRCV000208784 RCV001034627

NM_000551.4(VHL):c.358A>G (p.Arg120Gly)

SNV
Germline

Chr3:10146531

Likely pathogenic

Von Hippel-Lindau syndrome
Condition: not provided
Von Hippel-Lindau syndrome
Chuvash polycythemia

Criteria Provided
Multiple Submitters
No Conflicts

CA357028

rs_869025642

6 SubmittersRCV000208800 RCV001701790 RCV001379374

NM_000551.4(VHL):c.362A>G (p.Asp121Gly)

SNV
Germline

Chr3:10146535

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

CA357083

rs_5030832

5 SubmittersRCV000208830 RCV000679035 RCV004020567 RCV000801501

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 SubmittersRCV000208860 RCV004678642

NM_000551.4(VHL):c.414A>G (p.Pro138=)

SNV
Germline

Chr3:10146587

Pathogenic

Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
Chuvash polycythemia
Von Hippel-Lindau syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA357138

rs_869025648

7 SubmittersRCV000208865 RCV000216698 RCV000469600 RCV001636725

NM_000551.4(VHL):c.430G>T (p.Gly144Ter)

SNV
Germline

Chr3:10146603

Pathogenic

Von Hippel-Lindau syndrome
Von Hippel-Lindau syndrome
Chuvash polycythemia
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA357109

rs_869025650

3 SubmittersRCV000208850 RCV000692586 RCV004948219

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 SubmittersRCV000208822 RCV002327073

NM_000551.4(VHL):c.445G>C (p.Ala149Pro)

SNV
Germline

Chr3:10146618

Pathogenic

Von Hippel-Lindau syndrome
Von Hippel-Lindau syndrome
Chuvash polycythemia

Criteria Provided
Single Submitter

CA357120

rs_587780077

2 SubmittersRCV000208855 RCV001853329

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
Condition: not provided
Von Hippel-Lindau syndrome
Chuvash polycythemia

Criteria Provided
Multiple Submitters
No Conflicts

CA357026

rs_869025659

4 SubmittersRCV000208799 RCV004596112 RCV002515564

NM_000551.4(VHL):c.463+1G>C

SNV
Germline

Chr3:10146637

Likely pathogenic

Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Single Submitter

CA357023

rs_869025657

2 SubmittersRCV000208796 RCV005298462

NM_000551.4(VHL):c.470C>T (p.Thr157Ile)

SNV
Germline

Chr3:10149793

Pathogenic

Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA357133

rs_869025660

3 SubmittersRCV000208862 RCV004678643 RCV001289415

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 SubmittersRCV000208789 RCV003278699

NM_000551.4(VHL):c.486C>A (p.Cys162Ter)

SNV
Germline

Chr3:10149809

Pathogenic

Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
Von Hippel-Lindau syndrome
Chuvash polycythemia

Criteria Provided
Multiple Submitters
No Conflicts

CA357112

rs_5030622

3 SubmittersRCV000208851 RCV003165513 RCV001061348

NM_000551.4(VHL):c.486C>G (p.Cys162Trp)

SNV
Germline

Chr3:10149809

Pathogenic

Von Hippel-Lindau syndrome
Von Hippel-Lindau syndrome
Chuvash polycythemia
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA357016

rs_5030622

4 SubmittersRCV000208792 RCV000226031 RCV000567560 RCV000679043

NM_000551.4(VHL):c.490C>T (p.Gln164Ter)

SNV
Germline

Chr3:10149813

Pathogenic

Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
Von Hippel-Lindau syndrome
Chuvash polycythemia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA357060

rs_5030819

5 SubmittersRCV000208820 RCV002336585 RCV000792769 RCV000485182

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
Pheochromocytoma
Nonpapillary renal cell carcinoma
Von Hippel-Lindau syndrome
VHL-related disorder
Chuvash polycythemia
Hereditary cancer

Criteria Provided
Conflicting Classifications

CA041601

rs_561874453

13 SubmittersRCV000208797 RCV000236099 RCV000565491 RCV000631260 RCV002485365 RCV003422117 RCV003462397 RCV005230091

NM_000551.4(VHL):c.555C>G (p.Tyr185Ter)

SNV
Germline

Chr3:10149878

Pathogenic/Likely pathogenic

Von Hippel-Lindau syndrome
Von Hippel-Lindau syndrome
Chuvash polycythemia
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA357075

rs_864622109

3 SubmittersRCV000208826 RCV001377065 RCV000219064

NM_000551.4(VHL):c.593T>C (p.Leu198Pro)

SNV
Germline

Chr3:10149916

Likely pathogenic

Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA357145

rs_869025667

4 SubmittersRCV000208871 RCV001024703

NM_000551.4(VHL):c.641G>T (p.Ter214Leu)

SNV
Germline

Chr3:10149964

Likely pathogenic

Von Hippel-Lindau syndrome
Von Hippel-Lindau syndrome
Chuvash polycythemia

Criteria Provided
Single Submitter

CA357103

rs_869025668

2 SubmittersRCV000208844 RCV003765350

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

5 SubmittersRCV000216720 RCV000588802 RCV001382229

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
Chuvash polycythemia
Pheochromocytoma
Von Hippel-Lindau syndrome
Nonpapillary renal cell carcinoma
not specified

Criteria Provided
Conflicting Classifications

CA040825

rs_578091032

9 SubmittersRCV000228663 RCV000236708 RCV000411808 RCV000562501 RCV002487052 RCV002307459

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

4 SubmittersRCV000226904 RCV002418000 RCV003226914 RCV005401394

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

6 SubmittersRCV000236098 RCV001011022 RCV001081208 RCV003998847

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
Pheochromocytoma
Von Hippel-Lindau syndrome
Nonpapillary renal cell carcinoma
Condition: not provided

Criteria Provided
Conflicting Classifications

CA039640

rs_757781272

8 SubmittersRCV000230639 RCV000663291 RCV001012878 RCV002500764 RCV003151759

NM_000551.4(VHL):c.463+4C>T

SNV
Germline

Chr3:10146640

Conflicting classifications of pathogenicity

Chuvash polycythemia
Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Von Hippel-Lindau syndrome
Chuvash polycythemia
Nonpapillary renal cell carcinoma
Pheochromocytoma
Von Hippel-Lindau syndrome

Criteria Provided
Conflicting Classifications

CA10584230

rs_879253989

6 SubmittersRCV000560865 RCV001022813 RCV000679042 RCV003998905 RCV005025396

NM_000551.4(VHL):c.394C>T (p.Gln132Ter)

SNV
Germline

Chr3:10146567

Pathogenic

Condition: not provided
Von Hippel-Lindau syndrome
Von Hippel-Lindau syndrome
Chuvash polycythemia

Criteria Provided
Multiple Submitters
No Conflicts

CA10606205

rs_5030813

3 SubmittersRCV000404768 RCV000767266 RCV001859684

NM_000551.4(VHL):c.-64C>T

SNV
Germline

Chr3:10141784

Conflicting classifications of pathogenicity

Von Hippel-Lindau syndrome
Condition: not provided
VHL-related disorder
Hereditary cancer-predisposing syndrome
Chuvash polycythemia
Von Hippel-Lindau syndrome

Criteria Provided
Conflicting Classifications

CA10614384

rs_772944298

6 SubmittersRCV000330011 RCV000679013 RCV003892005 RCV002256218 RCV002057820

NM_000551.4(VHL):c.639T>C (p.Asp213=)

SNV
Germline

Chr3:10149962

Conflicting classifications of pathogenicity

Von Hippel-Lindau syndrome
Chuvash polycythemia
Von Hippel-Lindau syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA042035

rs_775624944

8 SubmittersRCV000342034 RCV001081661 RCV000679045 RCV001025221 RCV005238930

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
Chuvash polycythemia
Pheochromocytoma
Von Hippel-Lindau syndrome
Nonpapillary renal cell carcinoma
Chuvash polycythemia

Criteria Provided
Conflicting Classifications

CA16043991

rs_1057519261

9 SubmittersRCV000415643 RCV000476548 RCV001016912 RCV001584111 RCV003463824 RCV002488864

NM_000551.4(VHL):c.*7C>A

SNV
Germline

Chr3:10149972

Conflicting classifications of pathogenicity

Condition: not provided
Von Hippel-Lindau syndrome
VHL-related disorder

Criteria Provided
Conflicting Classifications

CA042089

rs_778005138

5 SubmittersRCV001703586 RCV005600907 RCV004742417

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
Nonpapillary renal cell carcinoma
Pheochromocytoma

Criteria Provided
Conflicting Classifications

CA16611052

rs_1060503557

6 SubmittersRCV000458939 RCV000579235 RCV000663055 RCV002418424 RCV005027533

NM_000551.4(VHL):c.43G>A (p.Ala15Thr)

SNV
Germline

Chr3:10141890

Conflicting classifications of pathogenicity

Chuvash polycythemia
Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
Chuvash polycythemia
Von Hippel-Lindau syndrome

Criteria Provided
Conflicting Classifications

CA16611060

rs_1060503568

4 SubmittersRCV000457623 RCV002329080 RCV003470500 RCV004001994

NM_000551.4(VHL):c.235C>G (p.Arg79Gly)

SNV
Germline

Chr3:10142082

Conflicting classifications of pathogenicity

Von Hippel-Lindau syndrome
Chuvash polycythemia
Pheochromocytoma
Von Hippel-Lindau syndrome
Chuvash polycythemia
Nonpapillary renal cell carcinoma
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA16611065

rs_200885420

4 SubmittersRCV000475786 RCV002475891 RCV004022892 RCV004722797

NM_000551.4(VHL):c.115G>C (p.Gly39Arg)

SNV
Germline

Chr3:10141962

Conflicting classifications of pathogenicity

Chuvash polycythemia
Von Hippel-Lindau syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA039367

rs_768650092

4 SubmittersRCV000463141 RCV001550254 RCV002356707

NM_000551.4(VHL):c.429C>T (p.Asp143=)

SNV
Germline

Chr3:10146602

Conflicting classifications of pathogenicity

Chuvash polycythemia
Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
not specified
Von Hippel-Lindau syndrome
Condition: not provided
Pheochromocytoma
Nonpapillary renal cell carcinoma
Chuvash polycythemia
Von Hippel-Lindau syndrome

Criteria Provided
Conflicting Classifications

CA040956

rs_773556807

6 SubmittersRCV000470382 RCV000564320 RCV000613763 RCV004002229 RCV002056727 RCV005027539

NM_000551.4(VHL):c.462A>G (p.Pro154=)

SNV
Germline/somatic

Chr3:10146635

Conflicting classifications of pathogenicity

Chuvash polycythemia
Von Hippel-Lindau syndrome
Lung sarcomatoid carcinoma
Condition: not provided

Criteria Provided
Conflicting Classifications

CA16611069

rs_1060503562

3 SubmittersRCV000474447 RCV003322605 RCV003317229

NM_000551.4(VHL):c.620C>T (p.Ala207Val)

SNV
Germline

Chr3:10149943

Conflicting classifications of pathogenicity

Chuvash polycythemia
Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
Chuvash polycythemia
Pheochromocytoma
Nonpapillary renal cell carcinoma
Von Hippel-Lindau syndrome
Condition: not provided
Von Hippel-Lindau syndrome

Criteria Provided
Conflicting Classifications

CA16611076

rs_1060503549

5 SubmittersRCV000461637 RCV002365666 RCV005027532 RCV003317228 RCV004802021

NM_000551.4(VHL):c.323G>A (p.Arg108His)

SNV
Germline

Chr3:10142170

Conflicting classifications of pathogenicity

Chuvash polycythemia
Von Hippel-Lindau syndrome
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 SubmittersRCV000458083 RCV001019385 RCV002269278 RCV004001987 RCV002489087

NM_000551.4(VHL):c.373C>T (p.His125Tyr)

SNV
Germline

Chr3:10146546

Conflicting classifications of pathogenicity

Chuvash polycythemia
Von Hippel-Lindau syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Von Hippel-Lindau syndrome
Pheochromocytoma
Nonpapillary renal cell carcinoma
Chuvash polycythemia
Von Hippel-Lindau syndrome

Criteria Provided
Conflicting Classifications

CA040676

rs_375401722

8 SubmittersRCV000462284 RCV000479517 RCV000708764 RCV002272247 RCV002489086

NM_000551.4(VHL):c.548C>T (p.Ser183Leu)

SNV
Germline

Chr3:10149871

Conflicting classifications of pathogenicity

Chuvash polycythemia
Von Hippel-Lindau syndrome
Chuvash polycythemia
Hereditary cancer-predisposing syndrome
Von Hippel-Lindau syndrome
Condition: not provided
Pheochromocytoma
Nonpapillary renal cell carcinoma
Chuvash polycythemia
Von Hippel-Lindau syndrome

Criteria Provided
Conflicting Classifications

CA041537

rs_5030823

9 SubmittersRCV000476376 RCV001007624 RCV002349982 RCV004001991 RCV003237874 RCV005027537

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 SubmittersRCV000464021 RCV003168861

NM_000551.4(VHL):c.586A>G (p.Lys196Glu)

SNV
Germline

Chr3:10149909

Conflicting classifications of pathogenicity

Chuvash polycythemia
Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
Chuvash polycythemia
Von Hippel-Lindau syndrome

Criteria Provided
Conflicting Classifications

CA16611099

rs_281860296

4 SubmittersRCV000476155 RCV002356706 RCV004568088 RCV004001993

NM_000551.4(VHL):c.18G>T (p.Glu6Asp)

SNV
Germline

Chr3:10141865

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

CA16611153

rs_1004620245

4 SubmittersRCV000459599 RCV002411515 RCV005054197 RCV004802022

NM_000551.4(VHL):c.21C>A (p.Asn7Lys)

SNV
Germline

Chr3:10141868

Conflicting classifications of pathogenicity

Chuvash polycythemia
Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Chuvash polycythemia
Pheochromocytoma
Nonpapillary renal cell carcinoma
Von Hippel-Lindau syndrome

Criteria Provided
Conflicting Classifications

CA16611156

rs_1060503561

5 SubmittersRCV000462197 RCV000574549 RCV001356021 RCV005027534

NM_000551.4(VHL):c.26A>C (p.Asp9Ala)

SNV
Germline

Chr3:10141873

Conflicting classifications of pathogenicity

Chuvash polycythemia
Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16611161

rs_1060503560

2 SubmittersRCV000471735 RCV002436462

NM_000551.4(VHL):c.27C>A (p.Asp9Glu)

SNV
Germline

Chr3:10141874

Conflicting classifications of pathogenicity

Chuvash polycythemia
Von Hippel-Lindau syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Von Hippel-Lindau syndrome

Criteria Provided
Conflicting Classifications

CA16611250

rs_1017141110

4 SubmittersRCV000456617 RCV003441887 RCV002436463 RCV004001988

NM_000551.4(VHL):c.488T>G (p.Leu163Arg)

SNV
Germline

Chr3:10149811

Pathogenic

Chuvash polycythemia
Von Hippel-Lindau syndrome
Von Hippel-Lindau syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16611277

rs_28940297

2 SubmittersRCV000474133 RCV005624214

NM_000551.4(VHL):c.613C>T (p.Arg205Cys)

SNV
Germline

Chr3:10149936

Conflicting classifications of pathogenicity

Chuvash polycythemia
Von Hippel-Lindau syndrome
Condition: not provided
Chuvash polycythemia
Hereditary cancer-predisposing syndrome
Von Hippel-Lindau syndrome
Chuvash polycythemia
Pheochromocytoma
Nonpapillary renal cell carcinoma
Von Hippel-Lindau syndrome

Criteria Provided
Conflicting Classifications

CA041940

rs_199926195

7 SubmittersRCV000471333 RCV000481600 RCV004568086 RCV002356704 RCV004787738 RCV005027535

NM_000551.4(VHL):c.221T>C (p.Val74Ala)

SNV
Germline

Chr3:10142068

Conflicting classifications of pathogenicity

Condition: not provided
Chuvash polycythemia
Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
Pheochromocytoma
Nonpapillary renal cell carcinoma
Chuvash polycythemia
Von Hippel-Lindau syndrome

Criteria Provided
Conflicting Classifications

CA16617786

rs_5030803

4 SubmittersRCV000484327 RCV000698497 RCV005298500 RCV002475938

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 SubmittersRCV000479941 RCV000767237 RCV001201718 RCV004678722

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 SubmittersRCV000482784 RCV002525827 RCV005056049 RCV005512750

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 SubmittersRCV000484822 RCV001258069 RCV005222956

NM_000551.4(VHL):c.599G>A (p.Arg200Gln)

SNV
Germline

Chr3:10149922

Conflicting classifications of pathogenicity

Condition: not provided
Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
VHL-related disorder
Chuvash polycythemia
Von Hippel-Lindau syndrome
Chuvash polycythemia

Criteria Provided
Conflicting Classifications

CA041791

rs_754016774

7 SubmittersRCV000479035 RCV001143974 RCV001024771 RCV003401545 RCV000823835 RCV003464021

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
Hereditary cancer-predisposing syndrome
Pheochromocytoma
Nonpapillary renal cell carcinoma
Chuvash polycythemia
Von Hippel-Lindau syndrome
Von Hippel-Lindau syndrome

Criteria Provided
Conflicting Classifications

CA041951

rs_777130107

8 SubmittersRCV000481472 RCV000631259 RCV001024946 RCV000764460 RCV004787783

NM_000551.4(VHL):c.208G>T (p.Glu70Ter)

SNV
Germline

Chr3:10142055

Pathogenic

Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Reviewed By Expert Panel

CA16602179

rs_5030802

4 SubmittersRCV000767235 RCV000492695 RCV000679020

NM_000551.4(VHL):c.250G>A (p.Val84Met)

SNV
Germline

Chr3:10142097

Pathogenic/Likely pathogenic

Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
Chuvash polycythemia
Von Hippel-Lindau syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA351750580

rs_5030827

5 SubmittersRCV000767245 RCV000492467 RCV000631269 RCV004721392

NM_000551.4(VHL):c.341-3T>G

SNV
Germline

Chr3:10146511

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Von Hippel-Lindau syndrome

Criteria Provided
Conflicting Classifications

CA16020704

rs_1131690965

2 SubmittersRCV000492211 RCV000767259

NM_000551.4(VHL):c.353T>C (p.Leu118Pro)

SNV
Germline

Chr3:10146526

Pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Von Hippel-Lindau syndrome
Chuvash polycythemia
Von Hippel-Lindau syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA70049399

rs_5030830

5 SubmittersRCV000492175 RCV001702663 RCV004591439 RCV000801496

NM_000551.4(VHL):c.353T>G (p.Leu118Arg)

SNV
Germline

Chr3:10146526

Pathogenic

Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA351753694

rs_5030830

2 SubmittersRCV003233031 RCV000492280

NM_000551.4(VHL):c.452T>C (p.Ile151Thr)

SNV
Germline

Chr3:10146625

Pathogenic

Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
See cases
Chuvash polycythemia
Von Hippel-Lindau syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA351754359

rs_869025655

4 SubmittersRCV000590238 RCV000492569 RCV004584391 RCV000705307

NM_000551.4(VHL):c.463+3A>G

SNV
Germline

Chr3:10146639

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Chuvash polycythemia
Von Hippel-Lindau syndrome
Pheochromocytoma
Von Hippel-Lindau syndrome

Criteria Provided
Conflicting Classifications

CA645369331

rs_1131690954

7 SubmittersRCV000492736 RCV000587888 RCV005222967 RCV001809448 RCV003316644

NM_000551.4(VHL):c.500G>C (p.Arg167Pro)

SNV
Germline

Chr3:10149823

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Von Hippel-Lindau syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA351756177

rs_5030821

2 SubmittersRCV000492510 RCV000767282

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

Criteria Provided
Conflicting Classifications

CA351756191

rs_1131690962

2 SubmittersRCV000492632 RCV003766762

NM_000551.4(VHL):c.533T>C (p.Leu178Pro)

SNV
Germline

Chr3:10149856

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Von Hippel-Lindau syndrome
Chuvash polycythemia
Von Hippel-Lindau syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA351756245

rs_5030822

6 SubmittersRCV000492520 RCV004701555 RCV000767287 RCV000631291

NM_000551.4(VHL):c.581T>G (p.Val194Gly)

SNV
Germline

Chr3:10149904

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Von Hippel-Lindau syndrome
Chuvash polycythemia
Von Hippel-Lindau syndrome
Pheochromocytoma
Von Hippel-Lindau syndrome
Chuvash polycythemia
Nonpapillary renal cell carcinoma

Criteria Provided
Conflicting Classifications

CA351756475

rs_1131690963

4 SubmittersRCV000492180 RCV000547627 RCV005056071 RCV005398712

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 SubmittersRCV000492237 RCV001030024

NM_000551.4(VHL):c.289C>A (p.Pro97Thr)

SNV
Germline

Chr3:10142136

Conflicting classifications of pathogenicity

Chuvash polycythemia
Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA351750843

rs_863224688

2 SubmittersRCV000536081 RCV005298511

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 SubmittersRCV000559388 RCV003478129 RCV004787842 RCV005298510

NM_000551.4(VHL):c.31G>C (p.Ala11Pro)

SNV
Germline

Chr3:10141878

Conflicting classifications of pathogenicity

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

CA351747101

rs_1236604706

4 SubmittersRCV000554589 RCV000764457 RCV001019152 RCV004791523

NM_000551.4(VHL):c.262T>A (p.Trp88Arg)

SNV
Germline

Chr3:10142109

Pathogenic

Chuvash polycythemia
Von Hippel-Lindau syndrome
Von Hippel-Lindau syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Chuvash polycythemia

Criteria Provided
Multiple Submitters
No Conflicts

CA351750671

rs_1553619431

7 SubmittersRCV000558602 RCV000587190 RCV000679026 RCV002431533 RCV003459186

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 SubmittersRCV000553383 RCV001021117 RCV001764530

NM_000551.4(VHL):c.385C>T (p.Leu129=)

SNV
Germline

Chr3:10146558

Conflicting classifications of pathogenicity

Von Hippel-Lindau syndrome
Chuvash polycythemia
Hereditary cancer-predisposing syndrome
Von Hippel-Lindau syndrome

Criteria Provided
Conflicting Classifications

CA040752

rs_369018004

3 SubmittersRCV000546965 RCV002358438 RCV005620962

NM_000551.4(VHL):c.492G>T (p.Gln164His)

SNV
Germline

Chr3:10149815

Pathogenic/Likely pathogenic

Chuvash polycythemia
Von Hippel-Lindau syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Von Hippel-Lindau syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA351756157

rs_1352275281

4 SubmittersRCV000538803 RCV002508221 RCV003302779 RCV003330751

NM_000551.4(VHL):c.12G>A (p.Arg4=)

SNV
Germline

Chr3:10141859

Conflicting classifications of pathogenicity

Von Hippel-Lindau syndrome
Chuvash polycythemia
Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA432536137

rs_1553619274

4 SubmittersRCV000551863 RCV005620959 RCV002384044 RCV004592548

NM_000551.4(VHL):c.37G>A (p.Val13Ile)

SNV
Germline

Chr3:10141884

Conflicting classifications of pathogenicity

Chuvash polycythemia
Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA70042199

rs_919338576

2 SubmittersRCV000532105 RCV004023757

NM_000551.4(VHL):c.99G>C (p.Ser33=)

SNV
Germline

Chr3:10141946

Conflicting classifications of pathogenicity

Von Hippel-Lindau syndrome
Chuvash polycythemia
Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA70042269

rs_912159589

5 SubmittersRCV000555182 RCV001150097 RCV002384045

NM_000551.4(VHL):c.105C>G (p.Ala35=)

SNV
Germline

Chr3:10141952

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Von Hippel-Lindau syndrome
Chuvash polycythemia
Von Hippel-Lindau syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA432536266

rs_1310829877

6 SubmittersRCV001009767 RCV000542575 RCV001150098 RCV001797098

NM_000551.4(VHL):c.312C>T (p.Gly104=)

SNV
Germline

Chr3:10142159

Conflicting classifications of pathogenicity

Von Hippel-Lindau syndrome
Chuvash polycythemia
Condition: not provided
Hereditary cancer-predisposing syndrome
VHL-related disorder
Von Hippel-Lindau syndrome
Nonpapillary renal cell carcinoma
Chuvash polycythemia
Pheochromocytoma
Von Hippel-Lindau syndrome

Criteria Provided
Conflicting Classifications

CA70046276

rs_946898891

6 SubmittersRCV000539418 RCV001545850 RCV001018749 RCV003392366 RCV005034085 RCV005620961

NM_000551.4(VHL):c.385C>G (p.Leu129Val)

SNV
Germline

Chr3:10146558

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Von Hippel-Lindau syndrome
Chuvash polycythemia
Condition: not provided
Von Hippel-Lindau syndrome

Criteria Provided
Conflicting Classifications

CA040734

rs_369018004

6 SubmittersRCV000568082 RCV000707457 RCV003441963 RCV004787963

NM_000551.4(VHL):c.302T>C (p.Leu101Pro)

SNV
Germline

Chr3:10142149

Likely pathogenic

Hereditary cancer-predisposing syndrome
Chuvash polycythemia
Von Hippel-Lindau syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA351751000

rs_1553619456

2 SubmittersRCV000574983 RCV001858152

NM_000551.4(VHL):c.487C>T (p.Leu163Phe)

SNV
Germline

Chr3:10149810

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Chuvash polycythemia
Von Hippel-Lindau syndrome
Von Hippel-Lindau syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA351756135

rs_1553620318

3 SubmittersRCV000561095 RCV001224534 RCV005056204

NM_000551.4(VHL):c.460C>T (p.Pro154Ser)

SNV
Germline

Chr3:10146633

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Von Hippel-Lindau syndrome
Chuvash polycythemia
Von Hippel-Lindau syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA351754405

rs_1553619993

4 SubmittersRCV000566330 RCV001046833 RCV001420952

NM_000551.4(VHL):c.508G>A (p.Val170Ile)

SNV
Germline

Chr3:10149831

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Von Hippel-Lindau syndrome
Chuvash polycythemia
Von Hippel-Lindau syndrome
Nonpapillary renal cell carcinoma
Chuvash polycythemia
Pheochromocytoma
Chuvash polycythemia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA351756194

rs_1553620326

7 SubmittersRCV000569840 RCV001210329 RCV002483543 RCV004568224 RCV003322793

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 SubmittersRCV000586256 RCV001853983 RCV005000363

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 SubmittersRCV000589183 RCV002377215 RCV005223019

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 SubmittersRCV000588483 RCV000631289 RCV002456285

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

Criteria Provided
Conflicting Classifications

CA70049495

rs_5030833

3 SubmittersRCV000589290 RCV000767268

NM_000551.4(VHL):c.238A>C (p.Ser80Arg)

SNV
Germline

Chr3:10142085

Pathogenic

Von Hippel-Lindau syndrome

Criteria Provided
Single Submitter

CA16621913

rs_786202787

1 SubmittersRCV000590356

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 SubmittersRCV000588434 RCV004024678

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 SubmittersRCV000589476 RCV000631292

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 SubmittersRCV000590750 RCV002225684 RCV002530908

NM_000551.4(VHL):c.484T>C (p.Cys162Arg)

SNV
Germline

Chr3:10149807

Pathogenic

Von Hippel-Lindau syndrome
Von Hippel-Lindau syndrome
Chuvash polycythemia

Criteria Provided
Multiple Submitters
No Conflicts

CA351756117

rs_1553620313

3 SubmittersRCV000587033 RCV001060967

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 SubmittersRCV000588324 RCV001044333 RCV005231141

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 SubmittersRCV001232610 RCV005240275

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 SubmittersRCV000587621 RCV000679038 RCV003767339

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 SubmittersRCV000615943 RCV005223047

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 SubmittersRCV000613129 RCV003767559

NM_000551.4(VHL):c.-10C>T

SNV
Germline

Chr3:10141838

Conflicting classifications of pathogenicity

not specified
Von Hippel-Lindau syndrome
Nonpapillary renal cell carcinoma
Pheochromocytoma
Chuvash polycythemia
Von Hippel-Lindau syndrome

Criteria Provided
Conflicting Classifications

CA541213514

rs_1192379474

3 SubmittersRCV000609650 RCV002498924 RCV004802290

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 SubmittersRCV000631303 RCV002431859 RCV003497874

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 SubmittersRCV000631271 RCV001553666 RCV002448934

NM_000551.4(VHL):c.298A>G (p.Thr100Ala)

SNV
Germline

Chr3:10142145

Conflicting classifications of pathogenicity

Von Hippel-Lindau syndrome
Chuvash polycythemia
Condition: not provided
Hereditary cancer-predisposing syndrome
Nonpapillary renal cell carcinoma
Von Hippel-Lindau syndrome
Chuvash polycythemia
Pheochromocytoma
Von Hippel-Lindau syndrome

Criteria Provided
Conflicting Classifications

CA040192

rs_745901803

8 SubmittersRCV000631270 RCV000997987 RCV002255483 RCV002477380 RCV004788047

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

4 SubmittersRCV000631276 RCV000714168 RCV002334057 RCV004691263

NM_000551.4(VHL):c.291C>G (p.Pro97=)

SNV
Germline

Chr3:10142138

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Von Hippel-Lindau syndrome
Chuvash polycythemia
Von Hippel-Lindau syndrome

Criteria Provided
Conflicting Classifications

CA70046209

rs_1805159

4 SubmittersRCV002438649 RCV001143971 RCV000631295

NM_000551.4(VHL):c.575C>T (p.Pro192Leu)

SNV
Germline

Chr3:10149898

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

CA351756444

rs_902694906

6 SubmittersRCV000631274 RCV000679044 RCV000767296 RCV002343200

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 SubmittersRCV000662755 RCV001230391 RCV001784228 RCV002422448

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 SubmittersRCV000679016 RCV002060844 RCV002256463 RCV001816688

NM_000551.4(VHL):c.-73C>T

SNV
Germline

Chr3:10141775

Conflicting classifications of pathogenicity

Chuvash polycythemia
Von Hippel-Lindau syndrome
Pheochromocytoma
Nonpapillary renal cell carcinoma
Von Hippel-Lindau syndrome
not specified

Criteria Provided
Conflicting Classifications

CA70041962

rs_1034934219

5 SubmittersRCV000764456 RCV001148529 RCV001796976

NM_000551.4(VHL):c.341-4A>T

SNV
Germline

Chr3:10146510

Conflicting classifications of pathogenicity

Condition: not provided
Chuvash polycythemia
Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
Von Hippel-Lindau syndrome

Criteria Provided
Conflicting Classifications

CA658822548

rs_1559428033

5 SubmittersRCV000679033 RCV001442130 RCV002458187 RCV005621014

NM_000551.4(VHL):c.3G>C (p.Met1Ile)

SNV
Germline

Chr3:10141850

Conflicting classifications of pathogenicity

Von Hippel-Lindau syndrome
Chuvash polycythemia
Hereditary cancer-predisposing syndrome
Von Hippel-Lindau syndrome

Criteria Provided
Conflicting Classifications

CA70042122

rs_578091032

3 SubmittersRCV000707210 RCV002369974 RCV004792421

NM_000551.4(VHL):c.217C>G (p.Gln73Glu)

SNV
Germline

Chr3:10142064

Conflicting classifications of pathogenicity

Von Hippel-Lindau syndrome
Chuvash polycythemia
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA70042515

rs_869025619

2 SubmittersRCV000686913 RCV002424590

NM_000551.4(VHL):c.264G>C (p.Trp88Cys)

SNV
Germline

Chr3:10142111

Pathogenic

Von Hippel-Lindau syndrome
Chuvash polycythemia

Criteria Provided
Single Submitter

CA351750678

rs_869025622

1 SubmittersRCV000704506

NM_000551.4(VHL):c.340G>A (p.Gly114Ser)

SNV
Germline

Chr3:10142187

Pathogenic

Von Hippel-Lindau syndrome
Chuvash polycythemia
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA351751372

rs_869025636

2 SubmittersRCV000707336 RCV003353002

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

Criteria Provided
Conflicting Classifications

CA891843323

rs_372340900

2 SubmittersRCV000688058 RCV005621015

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 SubmittersRCV000707189 RCV001759423

NM_000551.4(VHL):c.472C>G (p.Leu158Val)

SNV
Germline

Chr3:10149795

Pathogenic

Von Hippel-Lindau syndrome
Chuvash polycythemia
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA351756068

rs_1559429613

3 SubmittersRCV000688156 RCV001575396 RCV002334267

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.88G>A (p.Gly30Arg)

SNV
Germline

Chr3:10141935

Conflicting classifications of pathogenicity

Von Hippel-Lindau syndrome
Chuvash polycythemia
Hereditary cancer-predisposing syndrome
Condition: not provided
Von Hippel-Lindau syndrome

Criteria Provided
Conflicting Classifications

CA70042258

rs_913104799

4 SubmittersRCV000685906 RCV001018482 RCV002298738 RCV004802352

NM_000551.4(VHL):c.280G>T (p.Glu94Ter)

SNV
Germline

Chr3:10142127

Pathogenic

Hereditary cancer-predisposing syndrome
Von Hippel-Lindau syndrome
Von Hippel-Lindau syndrome
Chuvash polycythemia

Criteria Provided
Multiple Submitters
No Conflicts

CA70046202

rs_5030829

3 SubmittersRCV000708631 RCV000767251 RCV001222557

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 SubmittersRCV000756901 RCV001855883 RCV002332535

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

Criteria Provided
Multiple Submitters
No Conflicts

CA351756154

rs_1352275281

4 SubmittersRCV000756902 RCV001023281 RCV001382402

NM_000551.4(VHL):c.188T>A (p.Leu63Gln)

SNV
Germline

Chr3:10142035

Conflicting classifications of pathogenicity

Chuvash polycythemia
Von Hippel-Lindau syndrome
Von Hippel-Lindau syndrome

Criteria Provided
Conflicting Classifications

CA351748753

rs_104893827

2 SubmittersRCV001037923 RCV000767232

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 SubmittersRCV000767234 RCV001046095 RCV002422648

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 SubmittersRCV000767236 RCV001855961

NM_000551.4(VHL):c.227T>A (p.Phe76Tyr)

SNV
Germline

Chr3:10142074

Conflicting classifications of pathogenicity

Von Hippel-Lindau syndrome
Chuvash polycythemia
Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA351749231

rs_730882033

3 SubmittersRCV000767239 RCV005213385 RCV004027205

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 SubmittersRCV000767241 RCV001869052 RCV002260666

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 SubmittersRCV000767244 RCV001220559 RCV005512813

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 SubmittersRCV000767252 RCV002440591

NM_000551.4(VHL):c.294C>G (p.Tyr98Ter)

SNV
Germline

Chr3:10142141

Pathogenic

Von Hippel-Lindau syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA16621910

rs_1559426115

2 SubmittersRCV000767254 RCV004723159

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

Criteria Provided
Multiple Submitters
No Conflicts

CA351753726

rs_1559428077

4 SubmittersRCV000767262 RCV000821822 RCV002458373

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 SubmittersRCV000767264 RCV001855962

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

Criteria Provided
Conflicting Classifications

CA351754191

rs_773556807

2 SubmittersRCV000767271 RCV005286204

NM_000551.4(VHL):c.433C>T (p.Gln145Ter)

SNV
Germline

Chr3:10146606

Pathogenic

Von Hippel-Lindau syndrome

Criteria Provided
Single Submitter

CA351754219

rs_749704215

1 SubmittersRCV000767273

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 SubmittersRCV000767279 RCV005213386

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
Hereditary cancer-predisposing syndrome
Condition: not provided
Chuvash polycythemia
Von Hippel-Lindau syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA351756195

rs_864321642

5 SubmittersRCV000767283 RCV002334429 RCV001701154 RCV002533922

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 SubmittersRCV000767289 RCV003279047

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

2 SubmittersRCV000767294 RCV002536595

NM_000551.4(VHL):c.642A>G (p.Ter214Trp)

SNV
Germline

Chr3:10149965

Likely pathogenic

Von Hippel-Lindau syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA351756723

rs_1559430011

2 SubmittersRCV000767298

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 SubmittersRCV000780788 RCV001039507

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

Criteria Provided
Multiple Submitters
No Conflicts

CA351751359

rs_751232153

3 SubmittersRCV000780787 RCV001068352 RCV003307415

NM_000551.4(VHL):c.70G>A (p.Gly24Ser)

SNV
Germline

Chr3:10141917

Conflicting classifications of pathogenicity

Von Hippel-Lindau syndrome
Chuvash polycythemia
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA351747411

rs_1438223626

2 SubmittersRCV000803089 RCV003153844

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 SubmittersRCV000803524 RCV002381760 RCV003238229 RCV004001665

NM_000551.4(VHL):c.265C>T (p.Leu89Phe)

SNV
Germline

Chr3:10142112

Conflicting classifications of pathogenicity

Von Hippel-Lindau syndrome
Chuvash polycythemia
Hereditary cancer-predisposing syndrome
Condition: not provided
Von Hippel-Lindau syndrome
not specified

Criteria Provided
Conflicting Classifications

CA351750683

rs_1575922124

5 SubmittersRCV000807105 RCV003166260 RCV005623371 RCV004001694 RCV005432435

NM_000551.4(VHL):c.344A>G (p.His115Arg)

SNV
Germline

Chr3:10146517

Pathogenic

Von Hippel-Lindau syndrome
Chuvash polycythemia
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA70049376

rs_5030812

2 SubmittersRCV000822511 RCV003169035

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 SubmittersRCV000804483 RCV002336632

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 SubmittersRCV000815290 RCV001292677 RCV002345864 RCV005416425

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 SubmittersRCV000794955 RCV001020206 RCV001592972

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 SubmittersRCV000937631 RCV001395391 RCV002363426 RCV005621044

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 SubmittersRCV000987111 RCV001025239 RCV002550599

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
Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA896160296

rs_1346312258

9 SubmittersRCV001007626 RCV001238805 RCV003325984 RCV004588452 RCV005359743 RCV005298669

NM_000551.4(VHL):c.245G>A (p.Arg82His)

SNV
Germline

Chr3:10142092

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Von Hippel-Lindau syndrome
Chuvash polycythemia

Criteria Provided
Conflicting Classifications

CA351750549

rs_794726890

2 SubmittersRCV001015609 RCV001219698

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

Criteria Provided
Conflicting Classifications

CA351756230

rs_193922613

3 SubmittersRCV001023797 RCV001359453 RCV001536627

NM_000551.4(VHL):c.575C>G (p.Pro192Arg)

SNV
Germline

Chr3:10149898

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Von Hippel-Lindau syndrome
Chuvash polycythemia

Criteria Provided
Conflicting Classifications

CA70052552

rs_902694906

2 SubmittersRCV001024492 RCV001294333

NM_000551.4(VHL):c.341-1G>A

SNV
Germline

Chr3:10146513

Pathogenic

Hereditary cancer-predisposing syndrome
Von Hippel-Lindau syndrome
Chuvash polycythemia

Criteria Provided
Multiple Submitters
No Conflicts

CA351753591

rs_1575927648

3 SubmittersRCV001020234 RCV003447574 RCV003467657

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

Von Hippel-Lindau syndrome
Chuvash polycythemia
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA351747033

rs_1696114029

2 SubmittersRCV001071455 RCV004950253

NM_000551.4(VHL):c.21C>G (p.Asn7Lys)

SNV
Germline

Chr3:10141868

Conflicting classifications of pathogenicity

Chuvash polycythemia
Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA351747053

rs_1060503561

2 SubmittersRCV001053669 RCV004678922

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 SubmittersRCV001047363 RCV002355024

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
Nonpapillary renal cell carcinoma
Chuvash polycythemia
Pheochromocytoma

Criteria Provided
Conflicting Classifications

CA351748282

rs_1480825246

3 SubmittersRCV001042972 RCV004031308 RCV005029601

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 SubmittersRCV001046725 RCV003307840

NM_000551.4(VHL):c.208G>C (p.Glu70Gln)

SNV
Germline

Chr3:10142055

Likely pathogenic

Chuvash polycythemia
Von Hippel-Lindau syndrome

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

Criteria Provided
Conflicting Classifications

CA351750604

rs_1422271977

3 SubmittersRCV001043701 RCV002429599 RCV004570144

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 SubmittersRCV001063174 RCV004998628 RCV005298694

NM_000551.4(VHL):c.330C>G (p.His110Gln)

SNV
Germline

Chr3:10142177

Conflicting classifications of pathogenicity

Von Hippel-Lindau syndrome
Chuvash polycythemia
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA351751317

rs_1696140667

2 SubmittersRCV001071787 RCV005512904

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 SubmittersRCV001063276 RCV002290579 RCV003160518

NM_000551.4(VHL):c.599G>T (p.Arg200Leu)

SNV
Germline

Chr3:10149922

Likely pathogenic

Von Hippel-Lindau syndrome
Chuvash polycythemia

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 SubmittersRCV001092964 RCV002554860

NM_000551.4(VHL):c.*70C>T

SNV
Germline

Chr3:10150035

Conflicting classifications of pathogenicity

Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
not specified
VHL-related disorder
Chuvash polycythemia
Von Hippel-Lindau syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA70052740

rs_552290225

8 SubmittersRCV001145867 RCV002259085 RCV005419008 RCV004743300 RCV001512864 RCV001530804

NM_000551.4(VHL):c.362A>T (p.Asp121Val)

SNV
Germline

Chr3:10146535

Likely pathogenic

Chuvash polycythemia
Von Hippel-Lindau syndrome

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

Criteria Provided
Conflicting Classifications

CA351747150

rs_1553619289

2 SubmittersRCV001210678 RCV002356899

NM_000551.4(VHL):c.149C>G (p.Ala50Gly)

SNV
Germline

Chr3:10141996

Conflicting classifications of pathogenicity

Chuvash polycythemia
Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA351748259

rs_766576246

2 SubmittersRCV001204260 RCV004678990

NM_000551.4(VHL):c.264G>A (p.Trp88Ter)

SNV
Germline

Chr3:10142111

Pathogenic

Chuvash polycythemia
Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA351750677

rs_869025622

2 SubmittersRCV001205532 RCV003163557

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 SubmittersRCV001205464 RCV004803562 RCV004950324

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 SubmittersRCV001218453 RCV002339573 RCV004803575

NM_000551.4(VHL):c.130G>C (p.Gly44Arg)

SNV
Germline

Chr3:10141977

Conflicting classifications of pathogenicity

Chuvash polycythemia
Von Hippel-Lindau syndrome
Pheochromocytoma
Chuvash polycythemia
Von Hippel-Lindau syndrome
Nonpapillary renal cell carcinoma
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA351748058

rs_1575921446

3 SubmittersRCV001233308 RCV002484277 RCV005512962

NM_000551.4(VHL):c.478G>C (p.Glu160Gln)

SNV
Germline

Chr3:10149801

Conflicting classifications of pathogenicity

Chuvash polycythemia
Von Hippel-Lindau syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA351756093

rs_1696354965

3 SubmittersRCV001231369 RCV002484264 RCV004951379

NM_000551.4(VHL):c.93G>C (p.Glu31Asp)

SNV
Germline

Chr3:10141940

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
Von Hippel-Lindau syndrome

Criteria Provided
Conflicting Classifications

CA351747611

rs_1438911242

5 SubmittersRCV001243676 RCV005036526 RCV004034759 RCV004803600

NM_000551.4(VHL):c.563T>G (p.Leu188Arg)

SNV
Germline

Chr3:10149886

Likely pathogenic

Von Hippel-Lindau syndrome
Chuvash polycythemia

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

Hereditary cancer-predisposing syndrome
Chuvash polycythemia
Von Hippel-Lindau syndrome

Criteria Provided
Conflicting Classifications

CA70042374

rs_1056226386

3 SubmittersRCV002258187 RCV001300923

NM_000551.4(VHL):c.184G>C (p.Val62Leu)

SNV
Germline

Chr3:10142031

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Chuvash polycythemia
Von Hippel-Lindau syndrome

Criteria Provided
Conflicting Classifications

CA351748731

rs_747861291

2 SubmittersRCV002411940 RCV001295524

NM_000551.4(VHL):c.295C>A (p.Pro99Thr)

SNV
Germline

Chr3:10142142

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Chuvash polycythemia
Von Hippel-Lindau syndrome

Criteria Provided
Conflicting Classifications

CA351750899

rs_549807529

2 SubmittersRCV002437001 RCV001294550

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 SubmittersRCV001294956 RCV004803607

NM_000551.4(VHL):c.190C>A (p.Arg64Ser)

SNV
Germline

Chr3:10142037

Likely pathogenic

Chuvash polycythemia
Von Hippel-Lindau syndrome

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

Pheochromocytoma
Chuvash polycythemia
Von Hippel-Lindau syndrome

Criteria Provided
Conflicting Classifications

CA896160287

rs_1054796088

2 SubmittersRCV001810030 RCV001323871

NM_000551.4(VHL):c.365C>T (p.Ala122Val)

SNV
Germline

Chr3:10146538

Conflicting classifications of pathogenicity

Chuvash polycythemia
Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA351753771

rs_1696261924

2 SubmittersRCV001327637 RCV002456464

NM_000551.4(VHL):c.446C>T (p.Ala149Val)

SNV
Germline

Chr3:10146619

Likely pathogenic

Chuvash polycythemia
Von Hippel-Lindau syndrome

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

Chuvash polycythemia
Von Hippel-Lindau syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA351754415

rs_869025659

2 SubmittersRCV001323712 RCV001577162

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
Pheochromocytoma
Nonpapillary renal cell carcinoma
Chuvash polycythemia
Von Hippel-Lindau syndrome

Criteria Provided
Conflicting Classifications

CA351747563

rs_913104799

4 SubmittersRCV001351817 RCV002377495 RCV002486456 RCV004005245

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 SubmittersRCV001346919 RCV005513024

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 SubmittersRCV001338507 RCV002322272 RCV004005152

NM_000551.4(VHL):c.340+574A>T

SNV
Germline

Chr3:10142761

Conflicting classifications of pathogenicity

Chuvash polycythemia
Von Hippel-Lindau syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA70046634

rs_982745672

3 SubmittersRCV001344145 RCV004809566 RCV005513020

NM_000551.4(VHL):c.340+832T>C

SNV
Germline

Chr3:10143019

Conflicting classifications of pathogenicity

Von Hippel-Lindau syndrome
Chuvash polycythemia
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA1345067657

rs_1696165411

2 SubmittersRCV001348216 RCV003169706

NM_000551.4(VHL):c.593T>A (p.Leu198Gln)

SNV
Germline

Chr3:10149916

Likely pathogenic

Chuvash polycythemia
Von Hippel-Lindau syndrome
Von Hippel-Lindau syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA351756548

rs_869025667

2 SubmittersRCV001377066 RCV005419106

NM_000551.4(VHL):c.239G>A (p.Ser80Asn)

SNV
Germline

Chr3:10142086

Pathogenic/Likely pathogenic

Von Hippel-Lindau syndrome
Chuvash polycythemia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA70046108

rs_5030805

2 SubmittersRCV001382228 RCV004590365

NM_000551.4(VHL):c.400G>T (p.Glu134Ter)

SNV
Germline

Chr3:10146573

Pathogenic

Chuvash polycythemia
Von Hippel-Lindau syndrome
Von Hippel-Lindau syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA351753995

rs_2125128363

2 SubmittersRCV001381653 RCV005601773

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 SubmittersRCV001411728 RCV003160644 RCV005621101

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

Criteria Provided
Conflicting Classifications

CA432421796

rs_1559428077

2 SubmittersRCV001430668 RCV004793489

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 SubmittersRCV001577269 RCV002359188 RCV003316842 RCV003771754

NM_000551.4(VHL):c.-45C>A

SNV
Germline

Chr3:10141803

Conflicting classifications of pathogenicity

Condition: not provided
VHL-related disorder
Von Hippel-Lindau syndrome
Chuvash polycythemia

Criteria Provided
Conflicting Classifications

CA70041986

rs_372483939

3 SubmittersRCV001715376 RCV003968507 RCV003771863

NM_000551.4(VHL):c.244C>G (p.Arg82Gly)

SNV
Germline

Chr3:10142091

Pathogenic

Von Hippel-Lindau syndrome
Chuvash polycythemia
Von Hippel-Lindau syndrome

Criteria Provided
Single Submitter

CA351750544

rs_1214305423

2 SubmittersRCV001724795 RCV003771867

NM_000551.4(VHL):c.242C>A (p.Pro81Gln)

SNV
Germline

Chr3:10142089

Conflicting classifications of pathogenicity

Condition: not provided
Chuvash polycythemia
Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA351750529

rs_193922608

3 SubmittersRCV001771461 RCV001868619 RCV004040282

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.284C>G (p.Pro95Arg)

SNV
Germline

Chr3:10142131

Likely pathogenic

Von Hippel-Lindau syndrome

No Assertion Criteria Provided

CA351750809

rs_964996401

1 SubmittersRCV001786528

NM_000551.4(VHL):c.131G>C (p.Gly44Ala)

SNV
Germline

Chr3:10141978

Conflicting classifications of pathogenicity

Chuvash polycythemia
Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA351748061

rs_1056226386

2 SubmittersRCV002021926 RCV004946976

NM_000551.4(VHL):c.193T>A (p.Ser65Thr)

SNV
Germline

Chr3:10142040

Pathogenic

Chuvash polycythemia
Von Hippel-Lindau syndrome

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

Chuvash polycythemia
Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA645525016

rs_1131690954

2 SubmittersRCV001999191 RCV002337111

NM_000551.4(VHL):c.391A>T (p.Asn131Tyr)

SNV
Germline

Chr3:10146564

Likely pathogenic

Chuvash polycythemia
Von Hippel-Lindau syndrome

Criteria Provided
Single Submitter

CA351753934

rs_2125128340

1 SubmittersRCV002034406

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

Criteria Provided
Conflicting Classifications

CA351748241

rs_1696124466

2 SubmittersRCV002050011 RCV005513108

NM_000551.4(VHL):c.463+1G>T

SNV
Germline

Chr3:10146637

Pathogenic

Hereditary cancer-predisposing syndrome
Chuvash polycythemia
Von Hippel-Lindau syndrome
Von Hippel-Lindau syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16621935

rs_869025657

3 SubmittersRCV002331532 RCV001972698 RCV004044390

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 SubmittersRCV001979981 RCV004946927

NM_000551.4(VHL):c.37G>C (p.Val13Leu)

SNV
Germline

Chr3:10141884

Conflicting classifications of pathogenicity

Chuvash polycythemia
Von Hippel-Lindau syndrome
Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA351747145

rs_919338576

3 SubmittersRCV001927607 RCV004804288 RCV005298922

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 SubmittersRCV001988653 RCV003464363

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 SubmittersRCV001886409 RCV005298913

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 SubmittersRCV002007406 RCV003329425 RCV004728985

NM_000551.4(VHL):c.553T>A (p.Tyr185Asn)

SNV
Germline

Chr3:10149876

Conflicting classifications of pathogenicity

Chuvash polycythemia
Von Hippel-Lindau syndrome
Von Hippel-Lindau syndrome
Chuvash polycythemia
Chuvash polycythemia
Nonpapillary renal cell carcinoma
Pheochromocytoma
Von Hippel-Lindau syndrome

Criteria Provided
Conflicting Classifications

CA041587

rs_768390987

4 SubmittersRCV001905552 RCV004785360 RCV003470996 RCV005038435

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
Von Hippel-Lindau syndrome
Nonpapillary renal cell carcinoma
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA351747388

rs_1696118253

3 SubmittersRCV002001124 RCV005032064 RCV004946996

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 SubmittersRCV001961707 RCV004946953

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 SubmittersRCV001882271 RCV004041460

NM_000551.4(VHL):c.308C>T (p.Pro103Leu)

SNV
Germline

Chr3:10142155

Conflicting classifications of pathogenicity

Chuvash polycythemia
Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA351751083

rs_2125125299

2 SubmittersRCV001988554 RCV002324453

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 SubmittersRCV002292084 RCV002416559 RCV004005595

NM_000551.4(VHL):c.388G>A (p.Val130Ile)

SNV
Germline

Chr3:10146561

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Chuvash polycythemia
Von Hippel-Lindau syndrome

Criteria Provided
Conflicting Classifications

CA351753916

rs_104893830

3 SubmittersRCV002357396 RCV005232954 RCV003102470

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 SubmittersRCV002321463 RCV003775806

NM_000551.4(VHL):c.335A>C (p.Tyr112Ser)

SNV
Germline

Chr3:10142182

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Chuvash polycythemia
Von Hippel-Lindau syndrome

Criteria Provided
Conflicting Classifications

CA351751356

rs_869025633

2 SubmittersRCV002321045 RCV005213662

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 SubmittersRCV002330407 RCV005601897

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

Criteria Provided
Conflicting Classifications

CA351756131

rs_1553620318

2 SubmittersRCV002340459 RCV003775986

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 SubmittersRCV002353321 RCV003103239

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

Criteria Provided
Conflicting Classifications

CA039757

rs_769658318

2 SubmittersRCV002417451 RCV003101012

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 SubmittersRCV002417119 RCV005621196

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 SubmittersRCV002435999 RCV003455513

NM_000551.4(VHL):c.176C>T (p.Pro59Leu)

SNV
Germline

Chr3:10142023

Conflicting classifications of pathogenicity

Von Hippel-Lindau syndrome
Chuvash polycythemia
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA351748662

rs_1696126408

2 SubmittersRCV003092741 RCV004948980

NM_000551.4(VHL):c.361G>A (p.Asp121Asn)

SNV
Germline

Chr3:10146534

Pathogenic

Von Hippel-Lindau syndrome
Chuvash polycythemia

Criteria Provided
Single Submitter

CA351753750

rs_2125128261

1 SubmittersRCV002651639

NM_000551.4(VHL):c.464T>G (p.Val155Gly)

SNV
Germline

Chr3:10149787

Likely pathogenic

Von Hippel-Lindau syndrome
Chuvash polycythemia

Criteria Provided
Single Submitter

CA16621938

rs_2125130449

1 SubmittersRCV002651640

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

Von Hippel-Lindau syndrome
Chuvash polycythemia
Von Hippel-Lindau syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA351753586

rs_869025637

2 SubmittersRCV002877178 RCV003455591

NM_000551.4(VHL):c.161T>G (p.Met54Arg)

SNV
Germline

Chr3:10142008

Likely pathogenic

Von Hippel-Lindau syndrome
Chuvash polycythemia

Criteria Provided
Single Submitter

CA351748469

rs_1575921544

1 SubmittersRCV002908478

NM_000551.4(VHL):c.349T>C (p.Trp117Arg)

SNV
Germline

Chr3:10146522

Pathogenic

Chuvash polycythemia
Von Hippel-Lindau syndrome

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 SubmittersRCV003017988 RCV003465888 RCV005288874 RCV003317638

NM_000551.4(VHL):c.188T>G (p.Leu63Arg)

SNV
Germline

Chr3:10142035

Likely pathogenic

Hereditary cancer-predisposing syndrome
Chuvash polycythemia
Von Hippel-Lindau syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA351748749

rs_104893827

2 SubmittersRCV003300745 RCV005216033

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 SubmittersRCV003332732 RCV005621245

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

Criteria Provided
Single Submitter

CA351753597

rs_1575927648

1 SubmittersRCV003452624

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

Von Hippel-Lindau syndrome
Chuvash polycythemia

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

Chuvash polycythemia
Von Hippel-Lindau syndrome

Criteria Provided
Single Submitter

CA351749164

rs_2125125032

1 SubmittersRCV003813709

NM_000551.4(VHL):c.640T>C (p.Ter214Arg)

SNV
Germline

Chr3:10149963

Likely pathogenic

Chuvash polycythemia
Von Hippel-Lindau syndrome

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

2 SubmittersRCV004440400 RCV004440401

NM_000551.4(VHL):c.-10C>G

SNV
Germline

Chr3:10141838

Conflicting classifications of pathogenicity

Von Hippel-Lindau syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV004802869

NM_000551.4(VHL):c.597G>C (p.Glu199Asp)

SNV
Germline

Chr3:10149920

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Chuvash polycythemia
Von Hippel-Lindau syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV004950916 RCV005218380

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

Chuvash polycythemia
Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005212007 RCV005303531

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