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	Conflicting classifications of pathogenicity	Von Hippel-Lindau syndrome Condition: not provided Hereditary cancer-predisposing syndrome not specified Von Hippel-Lindau syndrome Chuvash polycythemia Pheochromocytoma	Criteria Provided Conflicting Classifications	CA020454	rs_5030821	17 SubmittersRCV000002300 RCV000325074 RCV000213850 RCV000506694 RCV000627745 RCV003448242
NM_000551.4(VHL):c.481C>T (p.Arg161Ter)	SNV Germline/somatic	Chr3:10149804	Pathogenic	Von Hippel-Lindau syndrome Condition: not provided Papillary renal cell carcinoma type 1 Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome Chuvash polycythemia Familial infantile myasthenia	Criteria Provided Multiple Submitters No Conflicts	CA020408	rs_5030818	13 SubmittersRCV000002301 RCV000161091 RCV000437445 RCV000492225 RCV000791367 RCV001280922
NM_000551.4(VHL):c.499C>T (p.Arg167Trp)	SNV Germline/somatic	Chr3:10149822	Pathogenic/Likely pathogenic	Pheochromocytoma Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome Condition: not provided Papillary renal cell carcinoma type 1 Von Hippel-Lindau syndrome Chuvash polycythemia Nonpapillary renal cell carcinoma Von Hippel-Lindau syndrome Pheochromocytoma Chuvash polycythemia Chuvash polycythemia	Criteria Provided Multiple Submitters No Conflicts	CA020450	rs_5030820	16 SubmittersRCV000002303 RCV000002302 RCV000132159 RCV000213079 RCV000435817 RCV000627746 RCV000763092 RCV003992144
NM_000551.4(VHL):c.499C>G (p.Arg167Gly)	SNV Germline	Chr3:10149822	Pathogenic	Von Hippel-Lindau syndrome Chuvash polycythemia Von Hippel-Lindau syndrome 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 Hereditary cancer-predisposing syndrome VHL-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA020277	rs_104893824	6 SubmittersRCV000002308 RCV000698407 RCV002321468 RCV003407257
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 Chuvash polycythemia Von Hippel-Lindau syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA020436	rs_104893825	4 SubmittersRCV000002310 RCV000220823 RCV001851578 RCV002288459
NM_000551.4(VHL):c.562C>G (p.Leu188Val)	SNV Germline	Chr3:10149885	Pathogenic/Likely pathogenic	Von Hippel-Lindau syndrome Pheochromocytoma Chuvash polycythemia Chuvash polycythemia Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome Condition: not provided Au-Kline syndrome	Criteria Provided Multiple Submitters No Conflicts	CA020488	rs_5030824	16 SubmittersRCV000002311 RCV000002313 RCV000002312 RCV000627743 RCV000210199 RCV000480890 RCV003330076
NM_000551.4(VHL):c.191G>C (p.Arg64Pro)	SNV Germline	Chr3:10142038	Pathogenic/Likely pathogenic	Pheochromocytoma Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome Chuvash polycythemia Von Hippel-Lindau syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA020089	rs_104893826	6 SubmittersRCV000002314 RCV000132356 RCV000208872 RCV000475973 RCV000679019
NM_000551.4(VHL):c.334T>A (p.Tyr112Asn)	SNV Germline	Chr3:10142181	Pathogenic	Von Hippel-Lindau syndrome	Criteria Provided Multiple Submitters No Conflicts	CA020273	rs_104893824	3 SubmittersRCV000002316
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 Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA020423	rs_28940297	4 SubmittersRCV000002319 RCV001231697 RCV004018540 RCV003298026
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 Nonpapillary renal cell carcinoma	Criteria Provided Conflicting Classifications	CA020510	rs_28940298	18 SubmittersRCV000002320 RCV000122262 RCV000148922 RCV000161094 RCV000722031 RCV000574264 RCV000627742 RCV002247239
NM_000551.4(VHL):c.241C>T (p.Pro81Ser)	SNV Germline/somatic	Chr3:10142088	Conflicting classifications of pathogenicity	Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome not specified Neoplasm Condition: not provided Von Hippel-Lindau syndrome Chuvash polycythemia Enchondromatosis Chuvash polycythemia Hepatoblastoma	Criteria Provided Conflicting Classifications	CA020148	rs_104893829	26 SubmittersRCV000002321 RCV000115744 RCV000213077 RCV000418681 RCV000656990 RCV001080004 RCV002467489 RCV003225718 RCV001843451
NM_000551.4(VHL):c.574C>T (p.Pro192Ser)	SNV Germline	Chr3:10149897	Conflicting classifications of pathogenicity	Chuvash polycythemia Condition: not provided Chuvash polycythemia Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome Chuvash polycythemia Von Hippel-Lindau syndrome Pheochromocytoma Nonpapillary renal cell carcinoma Von Hippel-Lindau syndrome	Criteria Provided Conflicting Classifications	CA020501	rs_28940300	8 SubmittersRCV000002322 RCV000236065 RCV000704063 RCV001024480 RCV002490296 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 Von Hippel-Lindau syndrome Chuvash polycythemia Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA020170	rs_5030827	6 SubmittersRCV000002324 RCV001851579 RCV002433440 RCV003884333
NM_000551.4(VHL):c.277G>A (p.Gly93Ser)	SNV Germline	Chr3:10142124	Pathogenic	Pheochromocytoma Von Hippel-Lindau syndrome Chuvash polycythemia Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome Chuvash polycythemia	Criteria Provided Multiple Submitters No Conflicts	CA020230	rs_5030808	6 SubmittersRCV000002325 RCV000208813 RCV000698471 RCV002433441 RCV003460405
NM_000551.4(VHL):c.491A>G (p.Gln164Arg)	SNV Germline	Chr3:10149814	Pathogenic	Von Hippel-Lindau syndrome Chuvash polycythemia Von Hippel-Lindau syndrome 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	Hereditary pheochromocytoma-paraganglioma Paragangliomas 4 Condition: not provided Hereditary cancer-predisposing syndrome Pheochromocytoma Paragangliomas 4 Gastrointestinal stromal tumor Pheochromocytoma Carney-Stratakis syndrome Paragangliomas 4 Von Hippel-Lindau syndrome	Criteria Provided Multiple Submitters No Conflicts	CA015643	rs_74315366	15 SubmittersRCV000037718 RCV000013616 RCV000183211 RCV000215883 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	10 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	Likely pathogenic	Von Hippel-Lindau syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA020308	rs_193922610	2 SubmittersRCV000030585 RCV000679036
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	Criteria Provided Multiple Submitters No Conflicts	CA020462	rs_193922613	3 SubmittersRCV000030589 RCV000492408 RCV000533687
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	Criteria Provided Multiple Submitters No Conflicts	CA020099	rs_5030826	9 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	Criteria Provided Multiple Submitters No Conflicts	CA020108	rs_5030802	8 SubmittersRCV000036540 RCV000492137 RCV001379599
NM_000551.4(VHL):c.319C>G (p.Arg107Gly)	SNV Germline	Chr3:10142166	Pathogenic/Likely pathogenic	Von Hippel-Lindau syndrome Chuvash polycythemia Pheochromocytoma Nonpapillary renal cell carcinoma Von Hippel-Lindau syndrome 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	Von Hippel-Lindau syndrome Condition: not provided Chuvash polycythemia Von Hippel-Lindau syndrome	Criteria Provided Multiple Submitters No Conflicts	CA020389	rs_5030817	4 SubmittersRCV000036546 RCV000724861 RCV001067480
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 Chuvash polycythemia Von Hippel-Lindau syndrome Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA020131	rs_5030804	9 SubmittersRCV000079207 RCV001034687 RCV000254892 RCV000492165
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	Criteria Provided Multiple Submitters No Conflicts	CA020174	rs_398123481	4 SubmittersRCV000079208 RCV000723702 RCV001227827
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	10 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.463+8C>T	SNV Germline	Chr3:10146644	Conflicting classifications of pathogenicity	not specified Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome Condition: not provided Chuvash polycythemia Von Hippel-Lindau syndrome	Criteria Provided Conflicting Classifications	CA020379	rs_5030834	22 SubmittersRCV000115747 RCV000123108 RCV000210772 RCV000589592 RCV001084968
NM_000551.4(VHL):c.119C>T (p.Pro40Leu)	SNV Germline	Chr3:10141966	Conflicting classifications of pathogenicity	not specified Chuvash polycythemia Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome Condition: not provided Ovarian cancer	Criteria Provided Conflicting Classifications	CA020046	rs_200343185	7 SubmittersRCV000122259 RCV000199012 RCV000565432 RCV000662921 RCV001588971 RCV003153403
NM_000551.4(VHL):c.3G>A (p.Met1Ile)	SNV Germline	Chr3:10141850	Conflicting classifications of pathogenicity	not specified Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome Chuvash polycythemia Condition: not provided Nonpapillary renal cell carcinoma Von Hippel-Lindau syndrome Chuvash polycythemia Pheochromocytoma	Criteria Provided Conflicting Classifications	CA020331	rs_578091032	11 SubmittersRCV000122260 RCV000409700 RCV000492595 RCV000467198 RCV000657025 RCV002483231
NM_000551.4(VHL):c.183C>G (p.Pro61=)	SNV Germline	Chr3:10142030	Conflicting classifications of pathogenicity	Von Hippel-Lindau syndrome not specified Hereditary cancer-predisposing syndrome Condition: not provided Chuvash polycythemia Von Hippel-Lindau syndrome	Criteria Provided Conflicting Classifications	CA020075	rs_63650860	11 SubmittersRCV000123102 RCV000213076 RCV000161102 RCV000658953 RCV001082042
NM_000551.4(VHL):c.25G>A (p.Asp9Asn)	SNV Germline	Chr3:10141872	Conflicting classifications of pathogenicity	Von Hippel-Lindau syndrome Von Hippel-Lindau syndrome Chuvash polycythemia Condition: not provided Hereditary cancer-predisposing syndrome Chuvash polycythemia	Criteria Provided Conflicting Classifications	CA020190	rs_587780730	7 SubmittersRCV000123104 RCV000524493 RCV001657771 RCV002426672 RCV003460872
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	Criteria Provided Conflicting Classifications	CA020217	rs_587780731	3 SubmittersRCV000123105 RCV001016495
NM_000551.4(VHL):c.-35G>A	SNV Germline	Chr3:10141813	Conflicting classifications of pathogenicity	not specified Condition: not provided Von Hippel-Lindau syndrome	Criteria Provided Conflicting Classifications	CA020304	rs_587780992	4 SubmittersRCV000126299 RCV000679009 RCV001148530
NM_000551.4(VHL):c.376G>A (p.Asp126Asn)	SNV Germline	Chr3:10146549	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome Chuvash polycythemia Von Hippel-Lindau syndrome Condition: not provided Chuvash polycythemia not specified	Criteria Provided Conflicting Classifications	CA020313	rs_104893831	11 SubmittersRCV000129380 RCV000663314 RCV000631273 RCV000679037 RCV001007623 RCV003155081
NM_000551.4(VHL):c.154G>A (p.Glu52Lys)	SNV Germline	Chr3:10142001	Conflicting classifications of pathogenicity	Von Hippel-Lindau syndrome Chuvash polycythemia Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome Condition: not provided Hepatoblastoma not specified VHL-related disorder Enchondromatosis	Criteria Provided Conflicting Classifications	CA020056	rs_373068386	15 SubmittersRCV000148923 RCV000227809 RCV000575111 RCV001704076 RCV001843484 RCV002465537 RCV003415985 RCV002467589
NM_000551.4(VHL):c.256C>T (p.Pro86Ser)	SNV Germline	Chr3:10142103	Pathogenic/Likely pathogenic	Von Hippel-Lindau syndrome Condition: not provided Hereditary cancer-predisposing syndrome Chuvash polycythemia Von Hippel-Lindau syndrome	Criteria Provided Multiple Submitters No Conflicts	CA020180	rs_398123481	6 SubmittersRCV000155449 RCV000413630 RCV000492763 RCV001059327
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 Chuvash polycythemia Von Hippel-Lindau syndrome not specified Von Hippel-Lindau syndrome	Criteria Provided Conflicting Classifications	CA020514	rs_35793832	7 SubmittersRCV000566000 RCV000679011 RCV002053943 RCV001818360 RCV003998532
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	Criteria Provided Conflicting Classifications	CA020518	rs_111246617	10 SubmittersRCV000161089 RCV000168429 RCV000294881 RCV000492422 RCV000781920 RCV003416030
NM_000551.4(VHL):c.194C>T (p.Ser65Leu)	SNV Germline	Chr3:10142041	Pathogenic	Cerebellar hemangioblastoma Retinal capillary hemangioma Spinal hemangioblastoma Pancreatic cysts Von Hippel-Lindau syndrome Chuvash polycythemia	Criteria Provided Multiple Submitters No Conflicts	CA020104	rs_5030826	3 SubmittersRCV000626711 RCV001389259
NM_000551.4(VHL):c.257C>T (p.Pro86Leu)	SNV Germline	Chr3:10142104	Pathogenic	Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome Chuvash polycythemia Von Hippel-Lindau syndrome	Criteria Provided Multiple Submitters No Conflicts	CA020186	rs_730882034	5 SubmittersRCV000208836 RCV000492524 RCV001382230
NM_000551.4(VHL):c.263G>A (p.Trp88Ter)	SNV Germline	Chr3:10142110	Pathogenic	Condition: not provided Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome Chuvash polycythemia	Criteria Provided Multiple Submitters No Conflicts	CA020197	rs_119103277	5 SubmittersRCV000161086 RCV000208798 RCV000492395 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 Chuvash polycythemia Von Hippel-Lindau syndrome	Criteria Provided Multiple Submitters No Conflicts	CA020207	rs_5030807	5 SubmittersRCV000161087 RCV000208869 RCV000817709
NM_000551.4(VHL):c.340+1G>C	SNV Germline/somatic	Chr3:10142188	Pathogenic/Likely pathogenic	Von Hippel-Lindau syndrome Von Hippel-Lindau syndrome Chuvash polycythemia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA020282	rs_730882032	3 SubmittersRCV000589885 RCV001850279 RCV003328124
NM_000551.4(VHL):c.473T>C (p.Leu158Pro)	SNV Germline	Chr3:10149796	Pathogenic	Condition: not provided Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome Chuvash polycythemia Von Hippel-Lindau syndrome	Criteria Provided Multiple Submitters No Conflicts	CA020399	rs_121913346	5 SubmittersRCV000161088 RCV000208846 RCV000492547 RCV001072084
NM_000551.4(VHL):c.482G>A (p.Arg161Gln)	SNV Germline	Chr3:10149805	Pathogenic	Condition: not provided Von Hippel-Lindau syndrome Chuvash polycythemia Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA020413	rs_730882035	10 SubmittersRCV000161092 RCV000208848 RCV000456958 RCV000563066
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 Chuvash polycythemia Von Hippel-Lindau syndrome 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 Chuvash polycythemia Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA020534	rs_200019083	8 SubmittersRCV000161101 RCV000287076 RCV000541199 RCV001025130 RCV001704152
NM_000551.4(VHL):c.209A>G (p.Glu70Gly)	SNV Germline	Chr3:10142056	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Chuvash polycythemia Von Hippel-Lindau syndrome Condition: not provided Chuvash polycythemia	Criteria Provided Conflicting Classifications	CA020113	rs_786202857	4 SubmittersRCV000165891 RCV000227354 RCV001545934 RCV003462191
NM_000551.4(VHL):c.238A>G (p.Ser80Gly)	SNV Germline	Chr3:10142085	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Chuvash polycythemia Von Hippel-Lindau syndrome Von Hippel-Lindau syndrome	Criteria Provided Multiple Submitters No Conflicts	CA020142	rs_786202787	3 SubmittersRCV000165774 RCV001388793 RCV002307423
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	Criteria Provided Multiple Submitters No Conflicts	CA020507	rs_281860296	5 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	Pheochromocytoma Von Hippel-Lindau syndrome Von Hippel-Lindau syndrome Chuvash polycythemia Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA279916	rs_864321643	4 SubmittersRCV000203508 RCV000208847 RCV001064921 RCV002433899
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	Criteria Provided Conflicting Classifications	CA041490	rs_778205243	8 SubmittersRCV000204757 RCV000235376 RCV000663322 RCV001024120 RCV004567477
NM_000551.4(VHL):c.628C>T (p.Arg210Trp)	SNV Germline	Chr3:10149951	Conflicting classifications of pathogenicity	Chuvash polycythemia Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome Condition: not provided Chuvash polycythemia Maffucci syndrome	Criteria Provided Conflicting Classifications	CA041992	rs_774380450	7 SubmittersRCV000204248 RCV000568942 RCV000662950 RCV001582712 RCV003468958 RCV002467673
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 Chuvash polycythemia Von Hippel-Lindau syndrome Condition: not provided Chuvash polycythemia	Criteria Provided Multiple Submitters No Conflicts	CA357085	rs_5030826	5 SubmittersRCV000208831 RCV001213116 RCV003233497 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	Criteria Provided Single Submitter	CA357051	rs_869025617	2 SubmittersRCV000208815 RCV001389820
NM_000551.4(VHL):c.214T>C (p.Ser72Pro)	SNV Germline	Chr3:10142061	Pathogenic/Likely pathogenic	Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome Chuvash polycythemia Von Hippel-Lindau syndrome	Criteria Provided Multiple Submitters No Conflicts	CA357006	rs_869025618	3 SubmittersRCV000208787 RCV000492124 RCV001382227
NM_000551.4(VHL):c.217C>T (p.Gln73Ter)	SNV Germline	Chr3:10142064	Pathogenic	Condition: not provided Chuvash polycythemia Von Hippel-Lindau syndrome Von Hippel-Lindau syndrome	Criteria Provided Multiple Submitters No Conflicts	CA357036	rs_869025619	3 SubmittersRCV000679022 RCV001218191 RCV000208804
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	Condition: not provided Chuvash polycythemia Von Hippel-Lindau syndrome Von Hippel-Lindau syndrome	Criteria Provided Multiple Submitters No Conflicts	CA357095	rs_5030804	3 SubmittersRCV000679024 RCV000805326 RCV000208838
NM_000551.4(VHL):c.233A>T (p.Asn78Ile)	SNV Germline	Chr3:10142080	Likely pathogenic	Von Hippel-Lindau syndrome Chuvash polycythemia Von Hippel-Lindau syndrome	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 Chuvash polycythemia Von Hippel-Lindau syndrome 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	Pathogenic/Likely pathogenic	Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome Chuvash polycythemia Von Hippel-Lindau syndrome	Criteria Provided Multiple Submitters No Conflicts	CA357078	rs_869025622	4 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 Chuvash polycythemia Von Hippel-Lindau syndrome 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 Chuvash polycythemia Von Hippel-Lindau syndrome Condition: not provided	Criteria Provided Single Submitter	CA357072	rs_864321643	4 SubmittersRCV000208825 RCV001218807 RCV001357107
NM_000551.4(VHL):c.311G>T (p.Gly104Val)	SNV Germline	Chr3:10142158	Conflicting classifications of pathogenicity	Von Hippel-Lindau syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA357033	rs_869025630	4 SubmittersRCV000208803 RCV000679030
NM_000551.4(VHL):c.320G>A (p.Arg107His)	SNV Germline	Chr3:10142167	Pathogenic	Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome Chuvash polycythemia VHL-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA357135	rs_193922609	4 SubmittersRCV000208864 RCV000492448 RCV001379601 RCV003897458
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 Chuvash polycythemia Von Hippel-Lindau syndrome	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 Von Hippel-Lindau syndrome Chuvash polycythemia 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	Criteria Provided Multiple Submitters No Conflicts	CA357101	rs_869025636	3 SubmittersRCV000208843 RCV003765349
NM_000551.4(VHL):c.340+1G>A	SNV Germline	Chr3:10142188	Pathogenic	Von Hippel-Lindau syndrome Chuvash polycythemia Von Hippel-Lindau syndrome Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA357042	rs_730882032	5 SubmittersRCV000208808 RCV001044454 RCV001701877 RCV004020566
NM_000551.4(VHL):c.341-2A>G	SNV Germline	Chr3:10146512	Pathogenic	Von Hippel-Lindau syndrome Von Hippel-Lindau syndrome Chuvash polycythemia	Criteria Provided Multiple Submitters No Conflicts	CA357004	rs_869025637	3 SubmittersRCV000208784 RCV001034627
NM_000551.4(VHL):c.358A>G (p.Arg120Gly)	SNV Germline	Chr3:10146531	Likely pathogenic	Von Hippel-Lindau syndrome Chuvash polycythemia Von Hippel-Lindau syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA357028	rs_869025642	6 SubmittersRCV000208800 RCV001379374 RCV001701790
NM_000551.4(VHL):c.362A>G (p.Asp121Gly)	SNV Germline	Chr3:10146535	Pathogenic/Likely pathogenic	Von Hippel-Lindau syndrome Condition: not provided Chuvash polycythemia Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA357083	rs_5030832	5 SubmittersRCV000208830 RCV000679035 RCV000801501 RCV004020567
NM_000551.4(VHL):c.374A>C (p.His125Pro)	SNV Germline	Chr3:10146547	Pathogenic	Von Hippel-Lindau syndrome	No Assertion Criteria Provided	CA357127	rs_869025643	1 SubmittersRCV000208860
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	6 SubmittersRCV000208865 RCV000216698 RCV000469600 RCV001636725
NM_000551.4(VHL):c.430G>T (p.Gly144Ter)	SNV Germline	Chr3:10146603	Pathogenic	Von Hippel-Lindau syndrome Chuvash polycythemia Von Hippel-Lindau syndrome	Criteria Provided Single Submitter	CA357109	rs_869025650	2 SubmittersRCV000208850 RCV000692586
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 Chuvash polycythemia Von Hippel-Lindau syndrome	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	Von Hippel-Lindau syndrome Von Hippel-Lindau syndrome Chuvash polycythemia	Criteria Provided Single Submitter	CA357026	rs_869025659	2 SubmittersRCV000208799 RCV002515564
NM_000551.4(VHL):c.463+1G>C	SNV Germline	Chr3:10146637	Pathogenic	Von Hippel-Lindau syndrome	No Assertion Criteria Provided	CA357023	rs_869025657	1 SubmittersRCV000208796
NM_000551.4(VHL):c.464-2A>G	SNV Germline/somatic	Chr3:10149785	Pathogenic	Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome Chuvash polycythemia Von Hippel-Lindau syndrome Chuvash polycythemia Pheochromocytoma Nonpapillary renal cell carcinoma Von Hippel-Lindau syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA357046	rs_5030816	5 SubmittersRCV000208810 RCV000216737 RCV000824251 RCV001535844 RCV001542804
NM_000551.4(VHL):c.464-1G>C	SNV Germline/somatic	Chr3:10149786	Pathogenic	Von Hippel-Lindau syndrome Condition: not provided	Criteria Provided Single Submitter	CA357081	rs_5030817	3 SubmittersRCV000208828 RCV001706206
NM_000551.4(VHL):c.464-1G>T	SNV Germline/somatic	Chr3:10149786	Pathogenic	Von Hippel-Lindau syndrome Chuvash polycythemia Von Hippel-Lindau syndrome Condition: not provided	Criteria Provided Single Submitter	CA357144	rs_5030817	3 SubmittersRCV000208870 RCV001853330 RCV003329261
NM_000551.4(VHL):c.470C>T (p.Thr157Ile)	SNV Germline	Chr3:10149793	Pathogenic	Von Hippel-Lindau syndrome Condition: not provided	Criteria Provided Single Submitter	CA357133	rs_869025660	2 SubmittersRCV000208862 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 Chuvash polycythemia Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA357112	rs_5030622	3 SubmittersRCV000208851 RCV001061348 RCV003165513
NM_000551.4(VHL):c.486C>G (p.Cys162Trp)	SNV Germline	Chr3:10149809	Pathogenic	Von Hippel-Lindau syndrome Chuvash polycythemia Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA357016	rs_5030622	4 SubmittersRCV000208792 RCV000226031 RCV000567560 RCV000679043
NM_000551.4(VHL):c.490C>T (p.Gln164Ter)	SNV Germline	Chr3:10149813	Pathogenic	Von Hippel-Lindau syndrome Condition: not provided Chuvash polycythemia Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA357060	rs_5030819	5 SubmittersRCV000208820 RCV000485182 RCV000792769 RCV002336585
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 Von Hippel-Lindau syndrome Chuvash polycythemia Nonpapillary renal cell carcinoma Von Hippel-Lindau syndrome Chuvash polycythemia Pheochromocytoma VHL-related disorder Chuvash polycythemia	Criteria Provided Conflicting Classifications	CA041601	rs_561874453	11 SubmittersRCV000208797 RCV000236099 RCV000565491 RCV000631260 RCV002485365 RCV003422117 RCV003462397
NM_000551.4(VHL):c.555C>G (p.Tyr185Ter)	SNV Germline	Chr3:10149878	Pathogenic/Likely pathogenic	Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome Chuvash polycythemia Von Hippel-Lindau syndrome	Criteria Provided Multiple Submitters No Conflicts	CA357075	rs_864622109	3 SubmittersRCV000208826 RCV000219064 RCV001377065
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 Chuvash polycythemia Von Hippel-Lindau syndrome	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 Von Hippel-Lindau syndrome Chuvash polycythemia	Criteria Provided Multiple Submitters No Conflicts	CA10578180	rs_5030827	4 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 not specified Pheochromocytoma Nonpapillary renal cell carcinoma Chuvash polycythemia Von Hippel-Lindau syndrome	Criteria Provided Conflicting Classifications	CA040825	rs_578091032	8 SubmittersRCV000228663 RCV000236708 RCV000411808 RCV000562501 RCV002307459 RCV002487052
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 Pheochromocytoma Nonpapillary renal cell carcinoma Chuvash polycythemia Von Hippel-Lindau syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA039640	rs_757781272	7 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 Condition: not provided Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome	Criteria Provided Conflicting Classifications	CA10584230	rs_879253989	5 SubmittersRCV000560865 RCV000679042 RCV001022813 RCV003998905
NM_000551.4(VHL):c.394C>T (p.Gln132Ter)	SNV Germline	Chr3:10146567	Pathogenic	Condition: not provided Von Hippel-Lindau syndrome Chuvash polycythemia Von Hippel-Lindau syndrome	Criteria Provided Multiple Submitters No Conflicts	CA10606205	rs_5030813	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 Hereditary cancer-predisposing syndrome Chuvash polycythemia Von Hippel-Lindau syndrome VHL-related disorder	Criteria Provided Conflicting Classifications	CA10614384	rs_772944298	5 SubmittersRCV000330011 RCV000679013 RCV002256218 RCV002057820 RCV003892005
NM_000551.4(VHL):c.639T>C (p.Asp213=)	SNV Germline	Chr3:10149962	Conflicting classifications of pathogenicity	Von Hippel-Lindau syndrome Condition: not provided Von Hippel-Lindau syndrome Chuvash polycythemia Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA042035	rs_775624944	6 SubmittersRCV000342034 RCV000679045 RCV001081661 RCV001025221
NM_000551.4(VHL):c.28G>A (p.Glu10Lys)	SNV Germline	Chr3:10141875	Conflicting classifications of pathogenicity	Von Hippel-Lindau syndrome Von Hippel-Lindau syndrome Chuvash polycythemia Hereditary cancer-predisposing syndrome Condition: not provided Von Hippel-Lindau syndrome Nonpapillary renal cell carcinoma Pheochromocytoma Chuvash polycythemia Chuvash polycythemia	Criteria Provided Conflicting Classifications	CA16043991	rs_1057519261	8 SubmittersRCV000415643 RCV000476548 RCV001016912 RCV001584111 RCV002488864 RCV003463824
NM_000551.4(VHL):c.1A>T (p.Met1Leu)	SNV Germline	Chr3:10141848	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	CA16611052	rs_1060503557	4 SubmittersRCV000458939 RCV000579235 RCV000663055 RCV002418424
NM_000551.4(VHL):c.429C>T (p.Asp143=)	SNV Germline	Chr3:10146602	Conflicting classifications of pathogenicity	Von Hippel-Lindau syndrome Chuvash polycythemia Hereditary cancer-predisposing syndrome Condition: not provided not specified Von Hippel-Lindau syndrome	Criteria Provided Conflicting Classifications	CA040956	rs_773556807	5 SubmittersRCV000470382 RCV000564320 RCV002056727 RCV000613763 RCV004002229
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 Condition: not provided	Criteria Provided Conflicting Classifications	CA16611076	rs_1060503549	3 SubmittersRCV000461637 RCV002365666 RCV003317228
NM_000551.4(VHL):c.323G>A (p.Arg108His)	SNV Germline	Chr3:10142170	Conflicting classifications of pathogenicity	Chuvash polycythemia Von Hippel-Lindau syndrome Condition: not provided Hereditary cancer-predisposing syndrome Chuvash polycythemia Von Hippel-Lindau syndrome Pheochromocytoma Nonpapillary renal cell carcinoma Von Hippel-Lindau syndrome	Criteria Provided Conflicting Classifications	CA040275	rs_367594943	5 SubmittersRCV000458083 RCV002269278 RCV001019385 RCV002489087 RCV004001987
NM_000551.4(VHL):c.373C>T (p.His125Tyr)	SNV Germline	Chr3:10146546	Conflicting classifications of pathogenicity	Von Hippel-Lindau syndrome Chuvash polycythemia Condition: not provided Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome Pheochromocytoma Von Hippel-Lindau syndrome Chuvash polycythemia Nonpapillary renal cell carcinoma	Criteria Provided Conflicting Classifications	CA040676	rs_375401722	8 SubmittersRCV000462284 RCV000479517 RCV000708764 RCV002272247 RCV002489086
NM_000551.4(VHL):c.586A>G (p.Lys196Glu)	SNV Germline	Chr3:10149909	Conflicting classifications of pathogenicity	Von Hippel-Lindau syndrome Chuvash polycythemia Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome Chuvash polycythemia	Criteria Provided Conflicting Classifications	CA16611099	rs_281860296	4 SubmittersRCV000476155 RCV002356706 RCV004001993 RCV004568088
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	Criteria Provided Conflicting Classifications	CA16611153	rs_1004620245	2 SubmittersRCV000459599 RCV002411515
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	Criteria Provided Conflicting Classifications	CA16611156	rs_1060503561	4 SubmittersRCV000462197 RCV000574549 RCV001356021
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 Hereditary cancer-predisposing syndrome Condition: not provided Von Hippel-Lindau syndrome	Criteria Provided Conflicting Classifications	CA16611250	rs_1017141110	4 SubmittersRCV000456617 RCV002436463 RCV003441887 RCV004001988
NM_000551.4(VHL):c.488T>G (p.Leu163Arg)	SNV Germline	Chr3:10149811	Pathogenic	Chuvash polycythemia Von Hippel-Lindau syndrome	Criteria Provided Single Submitter	CA16611277	rs_28940297	1 SubmittersRCV000474133
NM_000551.4(VHL):c.613C>T (p.Arg205Cys)	SNV Germline	Chr3:10149936	Conflicting classifications of pathogenicity	Condition: not provided Von Hippel-Lindau syndrome Chuvash polycythemia Hereditary cancer-predisposing syndrome Chuvash polycythemia	Criteria Provided Conflicting Classifications	CA041940	rs_199926195	4 SubmittersRCV000481600 RCV000471333 RCV002356704 RCV004568086
NM_000551.4(VHL):c.89G>A (p.Gly30Glu)	SNV Germline	Chr3:10141936	Conflicting classifications of pathogenicity	Chuvash polycythemia Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome Condition: not provided VHL-related disorder	Criteria Provided Conflicting Classifications	CA16617781	rs_1064793290	8 SubmittersRCV000696976 RCV001018619 RCV001294070 RCV001712442 RCV003900013
NM_000551.4(VHL):c.224T>G (p.Ile75Ser)	SNV Germline	Chr3:10142071	Conflicting classifications of pathogenicity	Condition: not provided Von Hippel-Lindau syndrome Chuvash polycythemia Von Hippel-Lindau syndrome	Criteria Provided Conflicting Classifications	CA16617787	rs_1064794271	3 SubmittersRCV000479941 RCV000767237 RCV001201718
NM_000551.4(VHL):c.393C>A (p.Asn131Lys)	SNV Germline	Chr3:10146566	Conflicting classifications of pathogenicity	Condition: not provided Chuvash polycythemia Von Hippel-Lindau syndrome	Criteria Provided Conflicting Classifications	CA16617789	rs_1064794272	3 SubmittersRCV000482784 RCV002525827
NM_000551.4(VHL):c.551T>C (p.Leu184Pro)	SNV Germline	Chr3:10149874	Pathogenic/Likely pathogenic	Condition: not provided Von Hippel-Lindau syndrome	Criteria Provided Multiple Submitters No Conflicts	CA16617792	rs_1064793878	3 SubmittersRCV000484822 RCV001258069
NM_000551.4(VHL):c.599G>A (p.Arg200Gln)	SNV Germline	Chr3:10149922	Conflicting classifications of pathogenicity	Condition: not provided Chuvash polycythemia Von Hippel-Lindau syndrome Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome Chuvash polycythemia VHL-related disorder	Criteria Provided Conflicting Classifications	CA041791	rs_754016774	7 SubmittersRCV000479035 RCV000823835 RCV001143974 RCV001024771 RCV003464021 RCV003401545
NM_000551.4(VHL):c.614G>A (p.Arg205His)	SNV Germline	Chr3:10149937	Conflicting classifications of pathogenicity	Condition: not provided Chuvash polycythemia Von Hippel-Lindau syndrome Pheochromocytoma Chuvash polycythemia Nonpapillary renal cell carcinoma Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA041951	rs_777130107	5 SubmittersRCV000481472 RCV000631259 RCV000764460 RCV001024946
NM_000551.4(VHL):c.208G>T (p.Glu70Ter)	SNV Germline	Chr3:10142055	Pathogenic	Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA16602179	rs_5030802	3 SubmittersRCV000492695 RCV000767235 RCV000679020
NM_000551.4(VHL):c.250G>A (p.Val84Met)	SNV Germline	Chr3:10142097	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Chuvash polycythemia Von Hippel-Lindau syndrome Von Hippel-Lindau syndrome	Criteria Provided Conflicting Classifications	CA351750580	rs_5030827	4 SubmittersRCV000492467 RCV000631269 RCV000767245
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 Chuvash polycythemia Von Hippel-Lindau syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA70049399	rs_5030830	4 SubmittersRCV000492175 RCV000801496 RCV001702663
NM_000551.4(VHL):c.353T>G (p.Leu118Arg)	SNV Germline	Chr3:10146526	Pathogenic	Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome	Criteria Provided Multiple Submitters No Conflicts	CA351753694	rs_5030830	2 SubmittersRCV000492280 RCV003233031
NM_000551.4(VHL):c.452T>C (p.Ile151Thr)	SNV Germline	Chr3:10146625	Pathogenic	Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome Chuvash polycythemia Von Hippel-Lindau syndrome See cases	Criteria Provided Multiple Submitters No Conflicts	CA351754359	rs_869025655	4 SubmittersRCV000492569 RCV000590238 RCV000705307 RCV004584391
NM_000551.4(VHL):c.463+3A>G	SNV Germline	Chr3:10146639	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Pheochromocytoma Von Hippel-Lindau syndrome	Criteria Provided Conflicting Classifications	CA645369331	rs_1131690954	6 SubmittersRCV000492736 RCV000587888 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	Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome Chuvash polycythemia Von Hippel-Lindau syndrome	Criteria Provided Multiple Submitters No Conflicts	CA351756245	rs_5030822	4 SubmittersRCV000492520 RCV000767287 RCV000631291
NM_000551.4(VHL):c.581T>G (p.Val194Gly)	SNV Germline	Chr3:10149904	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Chuvash polycythemia Von Hippel-Lindau syndrome	Criteria Provided Multiple Submitters No Conflicts	CA351756475	rs_1131690963	2 SubmittersRCV000492180 RCV000547627
NM_000551.4(VHL):c.583C>T (p.Gln195Ter)	SNV Germline	Chr3:10149906	Pathogenic	Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome	Criteria Provided Multiple Submitters No Conflicts	CA70052558	rs_5030825	3 SubmittersRCV000492237 RCV001030024
NM_000551.4(VHL):c.31G>C (p.Ala11Pro)	SNV Germline	Chr3:10141878	Conflicting classifications of pathogenicity	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	CA351747101	rs_1236604706	3 SubmittersRCV000554589 RCV001019152 RCV000764457
NM_000551.4(VHL):c.262T>A (p.Trp88Arg)	SNV Germline	Chr3:10142109	Pathogenic	Von Hippel-Lindau syndrome Condition: not provided Chuvash polycythemia Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome Chuvash polycythemia	Criteria Provided Multiple Submitters No Conflicts	CA351750671	rs_1553619431	7 SubmittersRCV000587190 RCV000679026 RCV000558602 RCV002431533 RCV003459186
NM_000551.4(VHL):c.377A>G (p.Asp126Gly)	SNV Germline	Chr3:10146550	Conflicting classifications of pathogenicity	Chuvash polycythemia Von Hippel-Lindau syndrome 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	Chuvash polycythemia Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA040752	rs_369018004	2 SubmittersRCV000546965 RCV002358438
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.37G>A (p.Val13Ile)	SNV Germline	Chr3:10141884	Conflicting classifications of pathogenicity	Von Hippel-Lindau syndrome Chuvash polycythemia Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA70042199	rs_919338576	2 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	4 SubmittersRCV000555182 RCV001150097 RCV002384045
NM_000551.4(VHL):c.105C>G (p.Ala35=)	SNV Germline	Chr3:10141952	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	CA432536266	rs_1310829877	5 SubmittersRCV000542575 RCV001009767 RCV001797098 RCV001150098
NM_000551.4(VHL):c.312C>T (p.Gly104=)	SNV Germline	Chr3:10142159	Conflicting classifications of pathogenicity	Chuvash polycythemia Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome Condition: not provided VHL-related disorder	Criteria Provided Conflicting Classifications	CA70046276	rs_946898891	4 SubmittersRCV000539418 RCV001018749 RCV001545850 RCV003392366
NM_000551.4(VHL):c.385C>G (p.Leu129Val)	SNV Germline	Chr3:10146558	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Chuvash polycythemia Von Hippel-Lindau syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA040734	rs_369018004	4 SubmittersRCV000568082 RCV000707457 RCV003441963
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	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Chuvash polycythemia Von Hippel-Lindau syndrome	Criteria Provided Conflicting Classifications	CA351756135	rs_1553620318	3 SubmittersRCV000561095 RCV001553667 RCV001224534
NM_000551.4(VHL):c.460C>T (p.Pro154Ser)	SNV Germline	Chr3:10146633	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Chuvash polycythemia Von Hippel-Lindau syndrome Von Hippel-Lindau syndrome Chuvash polycythemia	Criteria Provided Multiple Submitters No Conflicts	CA351754405	rs_1553619993	4 SubmittersRCV000566330 RCV001046833 RCV001420952 RCV003465279
NM_000551.4(VHL):c.278G>A (p.Gly93Asp)	SNV Germline	Chr3:10142125	Pathogenic	Von Hippel-Lindau syndrome Chuvash polycythemia Von Hippel-Lindau syndrome	Criteria Provided Multiple Submitters No Conflicts	CA351750781	rs_1553619440	3 SubmittersRCV000586256 RCV001853983
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	Criteria Provided Multiple Submitters No Conflicts	CA351753958	rs_1347416980	2 SubmittersRCV000589183 RCV002377215
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	Conflicting classifications of pathogenicity	Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA351753913	rs_104893830	3 SubmittersRCV000588434 RCV004024678
NM_000551.4(VHL):c.262T>C (p.Trp88Arg)	SNV Germline	Chr3:10142109	Pathogenic	Von Hippel-Lindau syndrome Chuvash polycythemia Von Hippel-Lindau syndrome	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 Chuvash polycythemia Von Hippel-Lindau syndrome	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 Chuvash polycythemia Von Hippel-Lindau syndrome	Criteria Provided Multiple Submitters No Conflicts	CA351756117	rs_1553620313	3 SubmittersRCV001060967 RCV000587033
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	Criteria Provided Multiple Submitters No Conflicts	CA351753631	rs_864622646	2 SubmittersRCV000588324 RCV001044333
NM_000551.4(VHL):c.407T>C (p.Phe136Ser)	SNV Germline	Chr3:10146580	Pathogenic/Likely pathogenic	Von Hippel-Lindau syndrome Condition: not provided Chuvash polycythemia Von Hippel-Lindau syndrome	Criteria Provided Multiple Submitters No Conflicts	CA040847	rs_5030833	5 SubmittersRCV000587621 RCV000679038 RCV003767339
NM_000551.4(VHL):c.-47C>T	SNV Germline	Chr3:10141801	Conflicting classifications of pathogenicity	not specified Chuvash polycythemia Von Hippel-Lindau syndrome	Criteria Provided Conflicting Classifications	CA041298	rs_745439844	3 SubmittersRCV000613129 RCV003767559
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	4 SubmittersRCV000631303 RCV002431859 RCV003497874
NM_000551.4(VHL):c.500G>T (p.Arg167Leu)	SNV Germline	Chr3:10149823	Pathogenic	Von Hippel-Lindau syndrome Chuvash polycythemia	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	Von Hippel-Lindau syndrome Chuvash polycythemia 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 Von Hippel-Lindau syndrome Nonpapillary renal cell carcinoma Pheochromocytoma Chuvash polycythemia	Criteria Provided Conflicting Classifications	CA040192	rs_745901803	6 SubmittersRCV000631270 RCV000997987 RCV002255483 RCV002477380
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	Condition: not provided Chuvash polycythemia Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA16621909	rs_869025657	3 SubmittersRCV000714168 RCV000631276 RCV002334057
NM_000551.4(VHL):c.291C>G (p.Pro97=)	SNV Germline	Chr3:10142138	Conflicting classifications of pathogenicity	Von Hippel-Lindau syndrome Chuvash polycythemia Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA70046209	rs_1805159	3 SubmittersRCV001143971 RCV000631295 RCV002438649
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		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 Von Hippel-Lindau syndrome Chuvash polycythemia Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_1060503557	5 SubmittersRCV000662755 RCV001230391 RCV001784228 RCV002422448
NM_000551.3(VHL):c.-97T>G	SNV Germline	Chr3:10141751	Conflicting classifications of pathogenicity	Condition: not provided not specified Chuvash polycythemia Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_34271731	5 SubmittersRCV000679016 RCV001816688 RCV002060844 RCV002256463
NM_000551.3(VHL):c.-73C>T	SNV Germline	Chr3:10141775	Conflicting classifications of pathogenicity	Chuvash polycythemia Von Hippel-Lindau syndrome Nonpapillary renal cell carcinoma Pheochromocytoma Von Hippel-Lindau syndrome not specified	Criteria Provided Conflicting Classifications		rs_1034934219	4 SubmittersRCV000764456 RCV001148529 RCV001796976
NM_000551.4(VHL):c.341-4A>T	SNV Germline	Chr3:10146510	Conflicting classifications of pathogenicity	Condition: not provided Von Hippel-Lindau syndrome Chuvash polycythemia Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_1559428033	4 SubmittersRCV000679033 RCV001442130 RCV002458187
NM_000551.4(VHL):c.264G>C (p.Trp88Cys)	SNV Germline	Chr3:10142111	Pathogenic	Von Hippel-Lindau syndrome Chuvash polycythemia	Criteria Provided Single Submitter		rs_869025622	1 SubmittersRCV000704506
NM_000551.4(VHL):c.340G>A (p.Gly114Ser)	SNV Germline	Chr3:10142187	Pathogenic	Chuvash polycythemia Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_869025636	2 SubmittersRCV000707336 RCV003353002
NM_000551.4(VHL):c.370A>G (p.Thr124Ala)	SNV Germline	Chr3:10146543	Conflicting classifications of pathogenicity	Chuvash polycythemia Von Hippel-Lindau syndrome Condition: not provided	Criteria Provided Conflicting Classifications		rs_1559428091	2 SubmittersRCV000707189 RCV001759423
NM_000551.4(VHL):c.472C>G (p.Leu158Val)	SNV Germline	Chr3:10149795	Pathogenic	Chuvash polycythemia Von Hippel-Lindau syndrome Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts		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		rs_1559426203	1 SubmittersRCV000685144
NM_000551.4(VHL):c.463+2T>C	SNV Germline	Chr3:10146638	Pathogenic	Chuvash polycythemia Von Hippel-Lindau syndrome Condition: not provided	Criteria Provided Single Submitter		rs_5030814	2 SubmittersRCV000690034 RCV000786844
NM_000551.4(VHL):c.88G>A (p.Gly30Arg)	SNV Germline	Chr3:10141935	Conflicting classifications of pathogenicity	Chuvash polycythemia Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications		rs_913104799	3 SubmittersRCV000685906 RCV001018482 RCV002298738
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		rs_5030829	3 SubmittersRCV000708631 RCV000767251 RCV001222557
NM_000551.4(VHL):c.481C>G (p.Arg161Gly)	SNV Germline	Chr3:10149804	Pathogenic	Condition: not provided Von Hippel-Lindau syndrome Chuvash polycythemia Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts		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 Von Hippel-Lindau syndrome Chuvash polycythemia	Criteria Provided Multiple Submitters No Conflicts		rs_1352275281	4 SubmittersRCV000756902 RCV001023281 RCV001382402
NM_000551.4(VHL):c.188T>A (p.Leu63Gln)	SNV Germline	Chr3:10142035	Conflicting classifications of pathogenicity	Von Hippel-Lindau syndrome Von Hippel-Lindau syndrome Chuvash polycythemia	Criteria Provided Conflicting Classifications		rs_104893827	2 SubmittersRCV000767232 RCV001037923
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		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 Von Hippel-Lindau syndrome Chuvash polycythemia	Criteria Provided Conflicting Classifications		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 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_730882033	2 SubmittersRCV000767239 RCV004027205
NM_000551.4(VHL):c.232A>C (p.Asn78His)	SNV Germline	Chr3:10142079	Pathogenic	Von Hippel-Lindau syndrome	Criteria Provided Single Submitter		rs_869025621	2 SubmittersRCV000767240
NM_000551.4(VHL):c.232A>G (p.Asn78Asp)	SNV Germline	Chr3:10142079	Pathogenic/Likely pathogenic	Von Hippel-Lindau syndrome Condition: not provided Von Hippel-Lindau syndrome Chuvash polycythemia	Criteria Provided Multiple Submitters No Conflicts		rs_869025621	4 SubmittersRCV000767241 RCV002260666 RCV001869052
NM_000551.4(VHL):c.239G>T (p.Ser80Ile)	SNV Germline	Chr3:10142086	Pathogenic	Von Hippel-Lindau syndrome Von Hippel-Lindau syndrome Chuvash polycythemia	Criteria Provided Multiple Submitters No Conflicts		rs_5030805	3 SubmittersRCV000767244 RCV001220559
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		rs_1559426089	2 SubmittersRCV000767252 RCV002440591
NM_000551.4(VHL):c.294C>G (p.Tyr98Ter)	SNV Germline	Chr3:10142141	Pathogenic	Von Hippel-Lindau syndrome	Criteria Provided Single Submitter		rs_1559426115	1 SubmittersRCV000767254
NM_000551.4(VHL):c.350G>A (p.Trp117Ter)	SNV Germline	Chr3:10146523	Pathogenic	Von Hippel-Lindau syndrome	Criteria Provided Single Submitter		rs_1559428056	1 SubmittersRCV000767261
NM_000551.4(VHL):c.357C>G (p.Phe119Leu)	SNV Germline	Chr3:10146530	Pathogenic	Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome Chuvash polycythemia Von Hippel-Lindau syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_1559428077	4 SubmittersRCV000767262 RCV002458373 RCV000821822
NM_000551.4(VHL):c.386T>C (p.Leu129Pro)	SNV Germline	Chr3:10146559	Conflicting classifications of pathogenicity	Von Hippel-Lindau syndrome Von Hippel-Lindau syndrome Chuvash polycythemia	Criteria Provided Conflicting Classifications		rs_1559428119	2 SubmittersRCV000767264 RCV001855962
NM_000551.4(VHL):c.433C>T (p.Gln145Ter)	SNV Germline	Chr3:10146606	Pathogenic	Von Hippel-Lindau syndrome	Criteria Provided Single Submitter		rs_749704215	1 SubmittersRCV000767273
NM_000551.4(VHL):c.497T>A (p.Val166Asp)	SNV Germline	Chr3:10149820	Pathogenic	Von Hippel-Lindau syndrome	Criteria Provided Single Submitter		rs_397516445	1 SubmittersRCV000767280
NM_000551.4(VHL):c.509T>A (p.Val170Asp)	SNV Germline	Chr3:10149832	Pathogenic/Likely pathogenic	Von Hippel-Lindau syndrome Condition: not provided Hereditary cancer-predisposing syndrome Chuvash polycythemia Von Hippel-Lindau syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_864321642	5 SubmittersRCV000767283 RCV001701154 RCV002334429 RCV002533922
NM_000551.4(VHL):c.529A>T (p.Arg177Ter)	SNV Germline	Chr3:10149852	Pathogenic	Von Hippel-Lindau syndrome	Criteria Provided Single Submitter		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		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		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		rs_1559429824	1 SubmittersRCV000767293
NM_000551.4(VHL):c.563T>C (p.Leu188Pro)	SNV Germline	Chr3:10149886	Pathogenic/Likely pathogenic	Von Hippel-Lindau syndrome Von Hippel-Lindau syndrome Chuvash polycythemia	Criteria Provided Multiple Submitters No Conflicts		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		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		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		rs_1559426203	2 SubmittersRCV000780788 RCV001039507
NM_000551.4(VHL):c.336C>G (p.Tyr112Ter)	SNV Germline	Chr3:10142183	Pathogenic/Likely pathogenic	Von Hippel-Lindau syndrome Chuvash polycythemia Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts		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		rs_1438223626	2 SubmittersRCV000803089 RCV003153844
NM_000551.4(VHL):c.265C>T (p.Leu89Phe)	SNV Germline	Chr3:10142112	Conflicting classifications of pathogenicity	Chuvash polycythemia Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome	Criteria Provided Conflicting Classifications		rs_1575922124	3 SubmittersRCV000807105 RCV003166260 RCV004001694
NM_000551.4(VHL):c.344A>G (p.His115Arg)	SNV Germline	Chr3:10146517	Pathogenic	Chuvash polycythemia Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts		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		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	Criteria Provided Conflicting Classifications		rs_370050374	4 SubmittersRCV000815290 RCV001292677 RCV002345864
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		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 Chuvash polycythemia Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_1014417508	3 SubmittersRCV000937631 RCV001395391 RCV002363426
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 Von Hippel-Lindau syndrome Chuvash polycythemia	Criteria Provided Conflicting Classifications		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 not specified Congenital Erythrocytosis	Criteria Provided Conflicting Classifications		rs_1346312258	5 SubmittersRCV001007626 RCV001238805 RCV003320779 RCV003325984
NM_000551.4(VHL):c.245G>A (p.Arg82His)	SNV Germline	Chr3:10142092	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Chuvash polycythemia Von Hippel-Lindau syndrome	Criteria Provided Conflicting Classifications		rs_794726890	2 SubmittersRCV001015609 RCV001219698
NM_000551.4(VHL):c.575C>G (p.Pro192Arg)	SNV Germline	Chr3:10149898	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Chuvash polycythemia Von Hippel-Lindau syndrome	Criteria Provided Conflicting Classifications		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		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		rs_1553620326	1 SubmittersRCV001028059
NM_000551.4(VHL):c.42C>T (p.Gly14=)	SNV Germline	Chr3:10141889	Conflicting classifications of pathogenicity	Chuvash polycythemia Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_1696116574	2 SubmittersRCV001061668 RCV002327336
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		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	Criteria Provided Conflicting Classifications		rs_1480825246	2 SubmittersRCV001042972 RCV004031308
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		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		rs_5030802	1 SubmittersRCV001051596
NM_000551.4(VHL):c.349T>G (p.Trp117Gly)	SNV Germline	Chr3:10146522	Pathogenic	Chuvash polycythemia Von Hippel-Lindau syndrome	Criteria Provided Single Submitter		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		rs_876659313	3 SubmittersRCV001063276 RCV002290579 RCV003160518
NM_000551.4(VHL):c.599G>T (p.Arg200Leu)	SNV Germline	Chr3:10149922	Likely pathogenic	Chuvash polycythemia Von Hippel-Lindau syndrome	Criteria Provided Single Submitter		rs_754016774	1 SubmittersRCV001042529
NM_000551.4(VHL):c.340+646A>T	SNV Germline	Chr3:10142833	Conflicting classifications of pathogenicity	Chuvash polycythemia Von Hippel-Lindau syndrome VHL-related disorder	Criteria Provided Conflicting Classifications		rs_765323685	2 SubmittersRCV001042467 RCV003953440
NM_000551.4(VHL):c.340+578C>T	SNV Germline	Chr3:10142765	Conflicting classifications of pathogenicity	Chuvash polycythemia Von Hippel-Lindau syndrome Pheochromocytoma Chuvash polycythemia Von Hippel-Lindau syndrome Nonpapillary renal cell carcinoma not specified Von Hippel-Lindau syndrome	Criteria Provided Conflicting Classifications		rs_139622356	5 SubmittersRCV001053915 RCV002497415 RCV003320798 RCV003316825
NM_000551.4(VHL):c.340+800G>A	SNV Germline	Chr3:10142987	Conflicting classifications of pathogenicity	Chuvash polycythemia Von Hippel-Lindau syndrome VHL-related disorder	Criteria Provided Conflicting Classifications		rs_999509680	2 SubmittersRCV001055734 RCV003918655
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		rs_1338996432	2 SubmittersRCV001092964 RCV002554860
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		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		rs_1553619289	2 SubmittersRCV001210678 RCV002356899
NM_000551.4(VHL):c.264G>A (p.Trp88Ter)	SNV Germline	Chr3:10142111	Pathogenic	Von Hippel-Lindau syndrome Chuvash polycythemia Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_869025622	2 SubmittersRCV001205532 RCV003163557
NM_000551.4(VHL):c.463+5T>G	SNV Germline	Chr3:10146641	Conflicting classifications of pathogenicity	Chuvash polycythemia Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_1003364563	2 SubmittersRCV001218453 RCV002339573
NM_000551.4(VHL):c.93G>C (p.Glu31Asp)	SNV Germline	Chr3:10141940	Conflicting classifications of pathogenicity	Von Hippel-Lindau syndrome Chuvash polycythemia Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_1438911242	2 SubmittersRCV001243676 RCV004034759
NM_000551.4(VHL):c.563T>G (p.Leu188Arg)	SNV Germline	Chr3:10149886	Likely pathogenic	Chuvash polycythemia Von Hippel-Lindau syndrome	Criteria Provided Single Submitter		rs_1559429824	1 SubmittersRCV001246640
NM_000551.4(VHL):c.131G>A (p.Gly44Asp)	SNV Germline	Chr3:10141978	Conflicting classifications of pathogenicity	Chuvash polycythemia Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_1056226386	3 SubmittersRCV001300923 RCV002258187
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		rs_1487408934	1 SubmittersRCV001322991
NM_000551.4(VHL):c.340+714G>A	SNV Germline	Chr3:10142901	Conflicting classifications of pathogenicity	Chuvash polycythemia Von Hippel-Lindau syndrome Pheochromocytoma	Criteria Provided Conflicting Classifications		rs_1054796088	2 SubmittersRCV001323871 RCV001810030
NM_000551.4(VHL):c.365C>T (p.Ala122Val)	SNV Germline	Chr3:10146538	Conflicting classifications of pathogenicity	Von Hippel-Lindau syndrome Chuvash polycythemia Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_1696261924	2 SubmittersRCV001327637 RCV002456464
NM_000551.4(VHL):c.446C>T (p.Ala149Val)	SNV Germline	Chr3:10146619	Likely pathogenic	Von Hippel-Lindau syndrome Chuvash polycythemia	Criteria Provided Single Submitter		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		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 Nonpapillary renal cell carcinoma Pheochromocytoma Chuvash polycythemia Von Hippel-Lindau syndrome	Criteria Provided Conflicting Classifications		rs_913104799	4 SubmittersRCV001351817 RCV002377495 RCV002486456 RCV004005245
NM_000551.4(VHL):c.340+574A>T	SNV Germline	Chr3:10142761	Likely pathogenic	Von Hippel-Lindau syndrome Chuvash polycythemia	Criteria Provided Single Submitter		rs_982745672	1 SubmittersRCV001344145
NM_000551.4(VHL):c.593T>A (p.Leu198Gln)	SNV Germline	Chr3:10149916	Likely pathogenic	Von Hippel-Lindau syndrome Chuvash polycythemia	Criteria Provided Single Submitter		rs_869025667	1 SubmittersRCV001377066
NM_000551.4(VHL):c.239G>A (p.Ser80Asn)	SNV Germline	Chr3:10142086	Pathogenic	Von Hippel-Lindau syndrome Chuvash polycythemia	Criteria Provided Single Submitter		rs_5030805	1 SubmittersRCV001382228
NM_000551.4(VHL):c.400G>T (p.Glu134Ter)	SNV Germline	Chr3:10146573	Pathogenic	Chuvash polycythemia Von Hippel-Lindau syndrome	Criteria Provided Single Submitter		rs_2125128363	1 SubmittersRCV001381653
NM_000551.4(VHL):c.340+621T>C	SNV Germline	Chr3:10142808	Conflicting classifications of pathogenicity	Chuvash polycythemia Von Hippel-Lindau syndrome VHL-related disorder	Criteria Provided Conflicting Classifications		rs_562162481	2 SubmittersRCV001406624 RCV003416325
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	Criteria Provided Conflicting Classifications		rs_1051892430	2 SubmittersRCV001411728 RCV003160644
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 Chuvash polycythemia Von Hippel-Lindau syndrome	Criteria Provided Multiple Submitters No Conflicts		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		rs_372483939	3 SubmittersRCV001715376 RCV003968507 RCV003771863
NM_000551.4(VHL):c.244C>G (p.Arg82Gly)	SNV Germline	Chr3:10142091	Pathogenic	Von Hippel-Lindau syndrome Von Hippel-Lindau syndrome Chuvash polycythemia	Criteria Provided Single Submitter		rs_1214305423	2 SubmittersRCV001724795 RCV003771867
NM_000551.4(VHL):c.242C>A (p.Pro81Gln)	SNV Germline	Chr3:10142089	Conflicting classifications of pathogenicity	Von Hippel-Lindau syndrome Chuvash polycythemia Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_193922608	3 SubmittersRCV001868619 RCV001771461 RCV004040282
NM_000551.4(VHL):c.602T>C (p.Leu201Pro)	SNV Germline	Chr3:10149925	Likely pathogenic	Von Hippel-Lindau syndrome	No Assertion Criteria Provided		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		rs_964996401	1 SubmittersRCV001786528
NM_000551.4(VHL):c.193T>A (p.Ser65Thr)	SNV Germline	Chr3:10142040	Pathogenic	Chuvash polycythemia Von Hippel-Lindau syndrome	Criteria Provided Single Submitter		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		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		rs_2125128340	1 SubmittersRCV002034406
NM_000551.4(VHL):c.463+1G>T	SNV Germline	Chr3:10146637	Pathogenic	Von Hippel-Lindau syndrome Chuvash polycythemia Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_869025657	3 SubmittersRCV001972698 RCV002331532 RCV004044390
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		rs_28940300	2 SubmittersRCV001988653 RCV003464363
NM_000551.4(VHL):c.475A>T (p.Lys159Ter)	SNV Germline	Chr3:10149798	Pathogenic	Chuvash polycythemia Von Hippel-Lindau syndrome Von Hippel-Lindau syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_1575932011	2 SubmittersRCV002007406 RCV003329425
NM_000551.4(VHL):c.341-11T>A	SNV Germline	Chr3:10146503	Pathogenic	Chuvash polycythemia Von Hippel-Lindau syndrome	Criteria Provided Single Submitter		rs_2125128187	1 SubmittersRCV001956145
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		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		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		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			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 Von Hippel-Lindau syndrome Chuvash polycythemia	Criteria Provided Conflicting Classifications			2 SubmittersRCV002357396 RCV003102470
NM_000551.4(VHL):c.406T>G (p.Phe136Val)	SNV Germline	Chr3:10146579	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome Chuvash polycythemia	Criteria Provided Conflicting Classifications			2 SubmittersRCV002321463 RCV003775806
NM_000551.4(VHL):c.487C>A (p.Leu163Ile)	SNV Germline	Chr3:10149810	Conflicting classifications of pathogenicity	Chuvash polycythemia Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications			2 SubmittersRCV003775986 RCV002340459
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			2 SubmittersRCV002353321 RCV003103239
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			2 SubmittersRCV002435999 RCV003455513
NM_000551.4(VHL):c.361G>A (p.Asp121Asn)	SNV Germline	Chr3:10146534	Pathogenic	Chuvash polycythemia Von Hippel-Lindau syndrome	Criteria Provided Single Submitter			1 SubmittersRCV002651639
NM_000551.4(VHL):c.464T>G (p.Val155Gly)	SNV Germline	Chr3:10149787	Likely pathogenic	Chuvash polycythemia Von Hippel-Lindau syndrome	Criteria Provided Single Submitter			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			1 SubmittersRCV002863461
NM_000551.4(VHL):c.341-2A>T	SNV Germline	Chr3:10146512	Pathogenic	Chuvash polycythemia Von Hippel-Lindau syndrome Von Hippel-Lindau syndrome	Criteria Provided Multiple Submitters No Conflicts			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			1 SubmittersRCV002908478
NM_000551.4(VHL):c.349T>C (p.Trp117Arg)	SNV Germline	Chr3:10146522	Pathogenic	Von Hippel-Lindau syndrome Chuvash polycythemia	Criteria Provided Single Submitter			1 SubmittersRCV003017971
NM_000551.4(VHL):c.292T>A (p.Tyr98Asn)	SNV Germline	Chr3:10142139	Pathogenic	Von Hippel-Lindau syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003388486
NM_000551.4(VHL):c.331A>C (p.Ser111Arg)	SNV Unknown	Chr3:10142178	Pathogenic	Von Hippel-Lindau syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003450556
NM_000551.4(VHL):c.341-1G>T	SNV Unknown	Chr3:10146513	Pathogenic	Von Hippel-Lindau syndrome	Criteria Provided Single Submitter			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			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			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			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			1 SubmittersRCV003781002
NM_000551.4(VHL):c.319C>A (p.Arg107Ser)	SNV Germline	Chr3:10142166	Pathogenic	Chuvash polycythemia Von Hippel-Lindau syndrome	Criteria Provided Single Submitter			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			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			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			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			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			1 SubmittersRCV003807570
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			2 SubmittersRCV004440400 RCV004440401

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

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA020454

rs_5030821

17 SubmittersRCV000002300 RCV000325074 RCV000213850 RCV000506694 RCV000627745 RCV003448242

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

SNV
Germline/somatic

Chr3:10149804

Pathogenic

Von Hippel-Lindau syndrome
Condition: not provided
Papillary renal cell carcinoma type 1
Hereditary cancer-predisposing syndrome
Von Hippel-Lindau syndrome
Chuvash polycythemia
Familial infantile myasthenia

Criteria Provided
Multiple Submitters
No Conflicts

CA020408

rs_5030818

13 SubmittersRCV000002301 RCV000161091 RCV000437445 RCV000492225 RCV000791367 RCV001280922

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

SNV
Germline/somatic

Chr3:10149822

Pathogenic/Likely pathogenic

Pheochromocytoma
Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Papillary renal cell carcinoma type 1
Von Hippel-Lindau syndrome
Chuvash polycythemia
Nonpapillary renal cell carcinoma
Von Hippel-Lindau syndrome
Pheochromocytoma
Chuvash polycythemia
Chuvash polycythemia

Criteria Provided
Multiple Submitters
No Conflicts

CA020450

rs_5030820

16 SubmittersRCV000002303 RCV000002302 RCV000132159 RCV000213079 RCV000435817 RCV000627746 RCV000763092 RCV003992144

NM_000551.4(VHL):c.499C>G (p.Arg167Gly)

SNV
Germline

Chr3:10149822

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA020277

rs_104893824

6 SubmittersRCV000002308 RCV000698407 RCV002321468 RCV003407257

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
Chuvash polycythemia
Von Hippel-Lindau syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA020436

rs_104893825

4 SubmittersRCV000002310 RCV000220823 RCV001851578 RCV002288459

NM_000551.4(VHL):c.562C>G (p.Leu188Val)

SNV
Germline

Chr3:10149885

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA020488

rs_5030824

16 SubmittersRCV000002311 RCV000002313 RCV000002312 RCV000627743 RCV000210199 RCV000480890 RCV003330076

NM_000551.4(VHL):c.191G>C (p.Arg64Pro)

SNV
Germline

Chr3:10142038

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA020089

rs_104893826

6 SubmittersRCV000002314 RCV000132356 RCV000208872 RCV000475973 RCV000679019

NM_000551.4(VHL):c.334T>A (p.Tyr112Asn)

SNV
Germline

Chr3:10142181

Pathogenic

Von Hippel-Lindau syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA020273

rs_104893824

3 SubmittersRCV000002316

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
Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA020423

rs_28940297

4 SubmittersRCV000002319 RCV001231697 RCV004018540 RCV003298026

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
Nonpapillary renal cell carcinoma

Criteria Provided
Conflicting Classifications

CA020510

rs_28940298

18 SubmittersRCV000002320 RCV000122262 RCV000148922 RCV000161094 RCV000722031 RCV000574264 RCV000627742 RCV002247239

NM_000551.4(VHL):c.241C>T (p.Pro81Ser)

SNV
Germline/somatic

Chr3:10142088

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA020148

rs_104893829

26 SubmittersRCV000002321 RCV000115744 RCV000213077 RCV000418681 RCV000656990 RCV001080004 RCV002467489 RCV003225718 RCV001843451

NM_000551.4(VHL):c.574C>T (p.Pro192Ser)

SNV
Germline

Chr3:10149897

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA020501

rs_28940300

8 SubmittersRCV000002322 RCV000236065 RCV000704063 RCV001024480 RCV002490296 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
Von Hippel-Lindau syndrome
Chuvash polycythemia
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA020170

rs_5030827

6 SubmittersRCV000002324 RCV001851579 RCV002433440 RCV003884333

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

SNV
Germline

Chr3:10142124

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA020230

rs_5030808

6 SubmittersRCV000002325 RCV000208813 RCV000698471 RCV002433441 RCV003460405

NM_000551.4(VHL):c.491A>G (p.Gln164Arg)

SNV
Germline

Chr3:10149814

Pathogenic

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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA015643

rs_74315366

15 SubmittersRCV000037718 RCV000013616 RCV000183211 RCV000215883 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

10 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

Likely pathogenic

Von Hippel-Lindau syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA020308

rs_193922610

2 SubmittersRCV000030585 RCV000679036

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

Criteria Provided
Multiple Submitters
No Conflicts

CA020462

rs_193922613

3 SubmittersRCV000030589 RCV000492408 RCV000533687

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

Criteria Provided
Multiple Submitters
No Conflicts

CA020099

rs_5030826

9 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

Criteria Provided
Multiple Submitters
No Conflicts

CA020108

rs_5030802

8 SubmittersRCV000036540 RCV000492137 RCV001379599

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

SNV
Germline

Chr3:10142166

Pathogenic/Likely pathogenic

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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA020389

rs_5030817

4 SubmittersRCV000036546 RCV000724861 RCV001067480

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

Criteria Provided
Multiple Submitters
No Conflicts

CA020131

rs_5030804

9 SubmittersRCV000079207 RCV001034687 RCV000254892 RCV000492165

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

Criteria Provided
Multiple Submitters
No Conflicts

CA020174

rs_398123481

4 SubmittersRCV000079208 RCV000723702 RCV001227827

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

10 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.463+8C>T

SNV
Germline

Chr3:10146644

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA020379

rs_5030834

22 SubmittersRCV000115747 RCV000123108 RCV000210772 RCV000589592 RCV001084968

NM_000551.4(VHL):c.119C>T (p.Pro40Leu)

SNV
Germline

Chr3:10141966

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA020046

rs_200343185

7 SubmittersRCV000122259 RCV000199012 RCV000565432 RCV000662921 RCV001588971 RCV003153403

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

SNV
Germline

Chr3:10141850

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA020331

rs_578091032

11 SubmittersRCV000122260 RCV000409700 RCV000492595 RCV000467198 RCV000657025 RCV002483231

NM_000551.4(VHL):c.183C>G (p.Pro61=)

SNV
Germline

Chr3:10142030

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA020075

rs_63650860

11 SubmittersRCV000123102 RCV000213076 RCV000161102 RCV000658953 RCV001082042

NM_000551.4(VHL):c.25G>A (p.Asp9Asn)

SNV
Germline

Chr3:10141872

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA020190

rs_587780730

7 SubmittersRCV000123104 RCV000524493 RCV001657771 RCV002426672 RCV003460872

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

Criteria Provided
Conflicting Classifications

CA020217

rs_587780731

3 SubmittersRCV000123105 RCV001016495

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

SNV
Germline

Chr3:10141813

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Von Hippel-Lindau syndrome

Criteria Provided
Conflicting Classifications

CA020304

rs_587780992

4 SubmittersRCV000126299 RCV000679009 RCV001148530

NM_000551.4(VHL):c.376G>A (p.Asp126Asn)

SNV
Germline

Chr3:10146549

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA020313

rs_104893831

11 SubmittersRCV000129380 RCV000663314 RCV000631273 RCV000679037 RCV001007623 RCV003155081

NM_000551.4(VHL):c.154G>A (p.Glu52Lys)

SNV
Germline

Chr3:10142001

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA020056

rs_373068386

15 SubmittersRCV000148923 RCV000227809 RCV000575111 RCV001704076 RCV001843484 RCV002465537 RCV003415985 RCV002467589

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

SNV
Germline

Chr3:10142103

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA020180

rs_398123481

6 SubmittersRCV000155449 RCV000413630 RCV000492763 RCV001059327

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
Chuvash polycythemia
Von Hippel-Lindau syndrome
not specified
Von Hippel-Lindau syndrome

Criteria Provided
Conflicting Classifications

CA020514

rs_35793832

7 SubmittersRCV000566000 RCV000679011 RCV002053943 RCV001818360 RCV003998532

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

Criteria Provided
Conflicting Classifications

CA020518

rs_111246617

10 SubmittersRCV000161089 RCV000168429 RCV000294881 RCV000492422 RCV000781920 RCV003416030

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

SNV
Germline

Chr3:10142041

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA020104

rs_5030826

3 SubmittersRCV000626711 RCV001389259

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

SNV
Germline

Chr3:10142104

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA020186

rs_730882034

5 SubmittersRCV000208836 RCV000492524 RCV001382230

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

SNV
Germline

Chr3:10142110

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA020197

rs_119103277

5 SubmittersRCV000161086 RCV000208798 RCV000492395 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
Chuvash polycythemia
Von Hippel-Lindau syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA020207

rs_5030807

5 SubmittersRCV000161087 RCV000208869 RCV000817709

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

SNV
Germline/somatic

Chr3:10142188

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA020282

rs_730882032

3 SubmittersRCV000589885 RCV001850279 RCV003328124

NM_000551.4(VHL):c.473T>C (p.Leu158Pro)

SNV
Germline

Chr3:10149796

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA020399

rs_121913346

5 SubmittersRCV000161088 RCV000208846 RCV000492547 RCV001072084

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

SNV
Germline

Chr3:10149805

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA020413

rs_730882035

10 SubmittersRCV000161092 RCV000208848 RCV000456958 RCV000563066

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

Criteria Provided
Conflicting Classifications

CA020534

rs_200019083

8 SubmittersRCV000161101 RCV000287076 RCV000541199 RCV001025130 RCV001704152

NM_000551.4(VHL):c.209A>G (p.Glu70Gly)

SNV
Germline

Chr3:10142056

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA020113

rs_786202857

4 SubmittersRCV000165891 RCV000227354 RCV001545934 RCV003462191

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

SNV
Germline

Chr3:10142085

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA020142

rs_786202787

3 SubmittersRCV000165774 RCV001388793 RCV002307423

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

Criteria Provided
Multiple Submitters
No Conflicts

CA020507

rs_281860296

5 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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA279916

rs_864321643

4 SubmittersRCV000203508 RCV000208847 RCV001064921 RCV002433899

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

Criteria Provided
Conflicting Classifications

CA041490

rs_778205243

8 SubmittersRCV000204757 RCV000235376 RCV000663322 RCV001024120 RCV004567477

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

SNV
Germline

Chr3:10149951

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA041992

rs_774380450

7 SubmittersRCV000204248 RCV000568942 RCV000662950 RCV001582712 RCV003468958 RCV002467673

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

Criteria Provided
Multiple Submitters
No Conflicts

CA357085

rs_5030826

5 SubmittersRCV000208831 RCV001213116 RCV003233497 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

Criteria Provided
Single Submitter

CA357051

rs_869025617

2 SubmittersRCV000208815 RCV001389820

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

SNV
Germline

Chr3:10142061

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA357006

rs_869025618

3 SubmittersRCV000208787 RCV000492124 RCV001382227

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

SNV
Germline

Chr3:10142064

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA357036

rs_869025619

3 SubmittersRCV000679022 RCV001218191 RCV000208804

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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA357095

rs_5030804

3 SubmittersRCV000679024 RCV000805326 RCV000208838

NM_000551.4(VHL):c.233A>T (p.Asn78Ile)

SNV
Germline

Chr3:10142080

Likely pathogenic

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

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
Chuvash polycythemia
Von Hippel-Lindau syndrome
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

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA357078

rs_869025622

4 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
Chuvash polycythemia
Von Hippel-Lindau syndrome
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
Chuvash polycythemia
Von Hippel-Lindau syndrome
Condition: not provided

Criteria Provided
Single Submitter

CA357072

rs_864321643

4 SubmittersRCV000208825 RCV001218807 RCV001357107

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

SNV
Germline

Chr3:10142158

Conflicting classifications of pathogenicity

Von Hippel-Lindau syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA357033

rs_869025630

4 SubmittersRCV000208803 RCV000679030

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

SNV
Germline

Chr3:10142167

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA357135

rs_193922609

4 SubmittersRCV000208864 RCV000492448 RCV001379601 RCV003897458

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
Chuvash polycythemia
Von Hippel-Lindau syndrome

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
Von Hippel-Lindau syndrome
Chuvash polycythemia
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

Criteria Provided
Multiple Submitters
No Conflicts

CA357101

rs_869025636

3 SubmittersRCV000208843 RCV003765349

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

SNV
Germline

Chr3:10142188

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA357042

rs_730882032

5 SubmittersRCV000208808 RCV001044454 RCV001701877 RCV004020566

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

SNV
Germline

Chr3:10146512

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA357004

rs_869025637

3 SubmittersRCV000208784 RCV001034627

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

SNV
Germline

Chr3:10146531

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA357028

rs_869025642

6 SubmittersRCV000208800 RCV001379374 RCV001701790

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

SNV
Germline

Chr3:10146535

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA357083

rs_5030832

5 SubmittersRCV000208830 RCV000679035 RCV000801501 RCV004020567

NM_000551.4(VHL):c.374A>C (p.His125Pro)

SNV
Germline

Chr3:10146547

Pathogenic

Von Hippel-Lindau syndrome

No Assertion Criteria Provided

CA357127

rs_869025643

1 SubmittersRCV000208860

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

6 SubmittersRCV000208865 RCV000216698 RCV000469600 RCV001636725

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

SNV
Germline

Chr3:10146603

Pathogenic

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

Criteria Provided
Single Submitter

CA357109

rs_869025650

2 SubmittersRCV000208850 RCV000692586

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
Chuvash polycythemia
Von Hippel-Lindau syndrome

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

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

Criteria Provided
Single Submitter

CA357026

rs_869025659

2 SubmittersRCV000208799 RCV002515564

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

SNV
Germline

Chr3:10146637

Pathogenic

Von Hippel-Lindau syndrome

No Assertion Criteria Provided

CA357023

rs_869025657

1 SubmittersRCV000208796

NM_000551.4(VHL):c.464-2A>G

SNV
Germline/somatic

Chr3:10149785

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA357046

rs_5030816

5 SubmittersRCV000208810 RCV000216737 RCV000824251 RCV001535844 RCV001542804

NM_000551.4(VHL):c.464-1G>C

SNV
Germline/somatic

Chr3:10149786

Pathogenic

Von Hippel-Lindau syndrome
Condition: not provided

Criteria Provided
Single Submitter

CA357081

rs_5030817

3 SubmittersRCV000208828 RCV001706206

NM_000551.4(VHL):c.464-1G>T

SNV
Germline/somatic

Chr3:10149786

Pathogenic

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

Criteria Provided
Single Submitter

CA357144

rs_5030817

3 SubmittersRCV000208870 RCV001853330 RCV003329261

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

SNV
Germline

Chr3:10149793

Pathogenic

Von Hippel-Lindau syndrome
Condition: not provided

Criteria Provided
Single Submitter

CA357133

rs_869025660

2 SubmittersRCV000208862 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
Chuvash polycythemia
Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA357112

rs_5030622

3 SubmittersRCV000208851 RCV001061348 RCV003165513

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

SNV
Germline

Chr3:10149809

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA357016

rs_5030622

4 SubmittersRCV000208792 RCV000226031 RCV000567560 RCV000679043

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

SNV
Germline

Chr3:10149813

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA357060

rs_5030819

5 SubmittersRCV000208820 RCV000485182 RCV000792769 RCV002336585

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

Criteria Provided
Conflicting Classifications

CA041601

rs_561874453

11 SubmittersRCV000208797 RCV000236099 RCV000565491 RCV000631260 RCV002485365 RCV003422117 RCV003462397

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

SNV
Germline

Chr3:10149878

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA357075

rs_864622109

3 SubmittersRCV000208826 RCV000219064 RCV001377065

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
Chuvash polycythemia
Von Hippel-Lindau syndrome

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
Von Hippel-Lindau syndrome
Chuvash polycythemia

Criteria Provided
Multiple Submitters
No Conflicts

CA10578180

rs_5030827

4 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
not specified
Pheochromocytoma
Nonpapillary renal cell carcinoma
Chuvash polycythemia
Von Hippel-Lindau syndrome

Criteria Provided
Conflicting Classifications

CA040825

rs_578091032

8 SubmittersRCV000228663 RCV000236708 RCV000411808 RCV000562501 RCV002307459 RCV002487052

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

Criteria Provided
Conflicting Classifications

CA039640

rs_757781272

7 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
Condition: not provided
Hereditary cancer-predisposing syndrome
Von Hippel-Lindau syndrome

Criteria Provided
Conflicting Classifications

CA10584230

rs_879253989

5 SubmittersRCV000560865 RCV000679042 RCV001022813 RCV003998905

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

SNV
Germline

Chr3:10146567

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA10606205

rs_5030813

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

Criteria Provided
Conflicting Classifications

CA10614384

rs_772944298

5 SubmittersRCV000330011 RCV000679013 RCV002256218 RCV002057820 RCV003892005

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

SNV
Germline

Chr3:10149962

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA042035

rs_775624944

6 SubmittersRCV000342034 RCV000679045 RCV001081661 RCV001025221

NM_000551.4(VHL):c.28G>A (p.Glu10Lys)

SNV
Germline

Chr3:10141875

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16043991

rs_1057519261

8 SubmittersRCV000415643 RCV000476548 RCV001016912 RCV001584111 RCV002488864 RCV003463824

NM_000551.4(VHL):c.1A>T (p.Met1Leu)

SNV
Germline

Chr3:10141848

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

CA16611052

rs_1060503557

4 SubmittersRCV000458939 RCV000579235 RCV000663055 RCV002418424

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

SNV
Germline

Chr3:10146602

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA040956

rs_773556807

5 SubmittersRCV000470382 RCV000564320 RCV002056727 RCV000613763 RCV004002229

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
Condition: not provided

Criteria Provided
Conflicting Classifications

CA16611076

rs_1060503549

3 SubmittersRCV000461637 RCV002365666 RCV003317228

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

SNV
Germline

Chr3:10142170

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA040275

rs_367594943

5 SubmittersRCV000458083 RCV002269278 RCV001019385 RCV002489087 RCV004001987

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

SNV
Germline

Chr3:10146546

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA040676

rs_375401722

8 SubmittersRCV000462284 RCV000479517 RCV000708764 RCV002272247 RCV002489086

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

SNV
Germline

Chr3:10149909

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16611099

rs_281860296

4 SubmittersRCV000476155 RCV002356706 RCV004001993 RCV004568088

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

Criteria Provided
Conflicting Classifications

CA16611153

rs_1004620245

2 SubmittersRCV000459599 RCV002411515

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

Criteria Provided
Conflicting Classifications

CA16611156

rs_1060503561

4 SubmittersRCV000462197 RCV000574549 RCV001356021

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

Criteria Provided
Conflicting Classifications

CA16611250

rs_1017141110

4 SubmittersRCV000456617 RCV002436463 RCV003441887 RCV004001988

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

SNV
Germline

Chr3:10149811

Pathogenic

Chuvash polycythemia
Von Hippel-Lindau syndrome

Criteria Provided
Single Submitter

CA16611277

rs_28940297

1 SubmittersRCV000474133

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

SNV
Germline

Chr3:10149936

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA041940

rs_199926195

4 SubmittersRCV000481600 RCV000471333 RCV002356704 RCV004568086

NM_000551.4(VHL):c.89G>A (p.Gly30Glu)

SNV
Germline

Chr3:10141936

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16617781

rs_1064793290

8 SubmittersRCV000696976 RCV001018619 RCV001294070 RCV001712442 RCV003900013

NM_000551.4(VHL):c.224T>G (p.Ile75Ser)

SNV
Germline

Chr3:10142071

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16617787

rs_1064794271

3 SubmittersRCV000479941 RCV000767237 RCV001201718

NM_000551.4(VHL):c.393C>A (p.Asn131Lys)

SNV
Germline

Chr3:10146566

Conflicting classifications of pathogenicity

Condition: not provided
Chuvash polycythemia
Von Hippel-Lindau syndrome

Criteria Provided
Conflicting Classifications

CA16617789

rs_1064794272

3 SubmittersRCV000482784 RCV002525827

NM_000551.4(VHL):c.551T>C (p.Leu184Pro)

SNV
Germline

Chr3:10149874

Pathogenic/Likely pathogenic

Condition: not provided
Von Hippel-Lindau syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16617792

rs_1064793878

3 SubmittersRCV000484822 RCV001258069

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

SNV
Germline

Chr3:10149922

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA041791

rs_754016774

7 SubmittersRCV000479035 RCV000823835 RCV001143974 RCV001024771 RCV003464021 RCV003401545

NM_000551.4(VHL):c.614G>A (p.Arg205His)

SNV
Germline

Chr3:10149937

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA041951

rs_777130107

5 SubmittersRCV000481472 RCV000631259 RCV000764460 RCV001024946

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

SNV
Germline

Chr3:10142055

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16602179

rs_5030802

3 SubmittersRCV000492695 RCV000767235 RCV000679020

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

SNV
Germline

Chr3:10142097

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA351750580

rs_5030827

4 SubmittersRCV000492467 RCV000631269 RCV000767245

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
Chuvash polycythemia
Von Hippel-Lindau syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA70049399

rs_5030830

4 SubmittersRCV000492175 RCV000801496 RCV001702663

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

SNV
Germline

Chr3:10146526

Pathogenic

Hereditary cancer-predisposing syndrome
Von Hippel-Lindau syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA351753694

rs_5030830

2 SubmittersRCV000492280 RCV003233031

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

SNV
Germline

Chr3:10146625

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA351754359

rs_869025655

4 SubmittersRCV000492569 RCV000590238 RCV000705307 RCV004584391

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

SNV
Germline

Chr3:10146639

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA645369331

rs_1131690954

6 SubmittersRCV000492736 RCV000587888 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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA351756245

rs_5030822

4 SubmittersRCV000492520 RCV000767287 RCV000631291

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

SNV
Germline

Chr3:10149904

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA351756475

rs_1131690963

2 SubmittersRCV000492180 RCV000547627

NM_000551.4(VHL):c.583C>T (p.Gln195Ter)

SNV
Germline

Chr3:10149906

Pathogenic

Hereditary cancer-predisposing syndrome
Von Hippel-Lindau syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA70052558

rs_5030825

3 SubmittersRCV000492237 RCV001030024

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

SNV
Germline

Chr3:10141878

Conflicting classifications of pathogenicity

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

CA351747101

rs_1236604706

3 SubmittersRCV000554589 RCV001019152 RCV000764457

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

SNV
Germline

Chr3:10142109

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA351750671

rs_1553619431

7 SubmittersRCV000587190 RCV000679026 RCV000558602 RCV002431533 RCV003459186

NM_000551.4(VHL):c.377A>G (p.Asp126Gly)

SNV
Germline

Chr3:10146550

Conflicting classifications of pathogenicity

Chuvash polycythemia
Von Hippel-Lindau syndrome
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

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

Criteria Provided
Conflicting Classifications

CA040752

rs_369018004

2 SubmittersRCV000546965 RCV002358438

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.37G>A (p.Val13Ile)

SNV
Germline

Chr3:10141884

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA70042199

rs_919338576

2 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

4 SubmittersRCV000555182 RCV001150097 RCV002384045

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

SNV
Germline

Chr3:10141952

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

CA432536266

rs_1310829877

5 SubmittersRCV000542575 RCV001009767 RCV001797098 RCV001150098

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

SNV
Germline

Chr3:10142159

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA70046276

rs_946898891

4 SubmittersRCV000539418 RCV001018749 RCV001545850 RCV003392366

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

SNV
Germline

Chr3:10146558

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA040734

rs_369018004

4 SubmittersRCV000568082 RCV000707457 RCV003441963

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

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA351756135

rs_1553620318

3 SubmittersRCV000561095 RCV001553667 RCV001224534

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

SNV
Germline

Chr3:10146633

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA351754405

rs_1553619993

4 SubmittersRCV000566330 RCV001046833 RCV001420952 RCV003465279

NM_000551.4(VHL):c.278G>A (p.Gly93Asp)

SNV
Germline

Chr3:10142125

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA351750781

rs_1553619440

3 SubmittersRCV000586256 RCV001853983

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

Criteria Provided
Multiple Submitters
No Conflicts

CA351753958

rs_1347416980

2 SubmittersRCV000589183 RCV002377215

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

Conflicting classifications of pathogenicity

Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA351753913

rs_104893830

3 SubmittersRCV000588434 RCV004024678

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

SNV
Germline

Chr3:10142109

Pathogenic

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

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
Chuvash polycythemia
Von Hippel-Lindau syndrome

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
Chuvash polycythemia
Von Hippel-Lindau syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA351756117

rs_1553620313

3 SubmittersRCV001060967 RCV000587033

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

Criteria Provided
Multiple Submitters
No Conflicts

CA351753631

rs_864622646

2 SubmittersRCV000588324 RCV001044333

NM_000551.4(VHL):c.407T>C (p.Phe136Ser)

SNV
Germline

Chr3:10146580

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA040847

rs_5030833

5 SubmittersRCV000587621 RCV000679038 RCV003767339

NM_000551.4(VHL):c.-47C>T

SNV
Germline

Chr3:10141801

Conflicting classifications of pathogenicity

not specified
Chuvash polycythemia
Von Hippel-Lindau syndrome

Criteria Provided
Conflicting Classifications

CA041298

rs_745439844

3 SubmittersRCV000613129 RCV003767559

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

4 SubmittersRCV000631303 RCV002431859 RCV003497874

NM_000551.4(VHL):c.500G>T (p.Arg167Leu)

SNV
Germline

Chr3:10149823

Pathogenic

Von Hippel-Lindau syndrome
Chuvash polycythemia

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

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

Criteria Provided
Conflicting Classifications

CA040192

rs_745901803

6 SubmittersRCV000631270 RCV000997987 RCV002255483 RCV002477380

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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16621909

rs_869025657

3 SubmittersRCV000714168 RCV000631276 RCV002334057

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

SNV
Germline

Chr3:10142138

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA70046209

rs_1805159

3 SubmittersRCV001143971 RCV000631295 RCV002438649

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

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

Criteria Provided
Conflicting Classifications

rs_1060503557

5 SubmittersRCV000662755 RCV001230391 RCV001784228 RCV002422448

NM_000551.3(VHL):c.-97T>G

SNV
Germline

Chr3:10141751

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_34271731

5 SubmittersRCV000679016 RCV001816688 RCV002060844 RCV002256463

NM_000551.3(VHL):c.-73C>T

SNV
Germline

Chr3:10141775

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1034934219

4 SubmittersRCV000764456 RCV001148529 RCV001796976

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

SNV
Germline

Chr3:10146510

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1559428033

4 SubmittersRCV000679033 RCV001442130 RCV002458187

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

SNV
Germline

Chr3:10142111

Pathogenic

Von Hippel-Lindau syndrome
Chuvash polycythemia

Criteria Provided
Single Submitter

rs_869025622

1 SubmittersRCV000704506

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

SNV
Germline

Chr3:10142187

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_869025636

2 SubmittersRCV000707336 RCV003353002

NM_000551.4(VHL):c.370A>G (p.Thr124Ala)

SNV
Germline

Chr3:10146543

Conflicting classifications of pathogenicity

Chuvash polycythemia
Von Hippel-Lindau syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1559428091

2 SubmittersRCV000707189 RCV001759423

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

SNV
Germline

Chr3:10149795

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

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

rs_1559426203

1 SubmittersRCV000685144

NM_000551.4(VHL):c.463+2T>C

SNV
Germline

Chr3:10146638

Pathogenic

Chuvash polycythemia
Von Hippel-Lindau syndrome
Condition: not provided

Criteria Provided
Single Submitter

rs_5030814

2 SubmittersRCV000690034 RCV000786844

NM_000551.4(VHL):c.88G>A (p.Gly30Arg)

SNV
Germline

Chr3:10141935

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_913104799

3 SubmittersRCV000685906 RCV001018482 RCV002298738

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

rs_5030829

3 SubmittersRCV000708631 RCV000767251 RCV001222557

NM_000551.4(VHL):c.481C>G (p.Arg161Gly)

SNV
Germline

Chr3:10149804

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

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
Von Hippel-Lindau syndrome
Chuvash polycythemia

Criteria Provided
Multiple Submitters
No Conflicts

rs_1352275281

4 SubmittersRCV000756902 RCV001023281 RCV001382402

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

SNV
Germline

Chr3:10142035

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_104893827

2 SubmittersRCV000767232 RCV001037923

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

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
Von Hippel-Lindau syndrome
Chuvash polycythemia

Criteria Provided
Conflicting Classifications

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
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_730882033

2 SubmittersRCV000767239 RCV004027205

NM_000551.4(VHL):c.232A>C (p.Asn78His)

SNV
Germline

Chr3:10142079

Pathogenic

Von Hippel-Lindau syndrome

Criteria Provided
Single Submitter

rs_869025621

2 SubmittersRCV000767240

NM_000551.4(VHL):c.232A>G (p.Asn78Asp)

SNV
Germline

Chr3:10142079

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_869025621

4 SubmittersRCV000767241 RCV002260666 RCV001869052

NM_000551.4(VHL):c.239G>T (p.Ser80Ile)

SNV
Germline

Chr3:10142086

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_5030805

3 SubmittersRCV000767244 RCV001220559

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

rs_1559426089

2 SubmittersRCV000767252 RCV002440591

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

SNV
Germline

Chr3:10142141

Pathogenic

Von Hippel-Lindau syndrome

Criteria Provided
Single Submitter

rs_1559426115

1 SubmittersRCV000767254

NM_000551.4(VHL):c.350G>A (p.Trp117Ter)

SNV
Germline

Chr3:10146523

Pathogenic

Von Hippel-Lindau syndrome

Criteria Provided
Single Submitter

rs_1559428056

1 SubmittersRCV000767261

NM_000551.4(VHL):c.357C>G (p.Phe119Leu)

SNV
Germline

Chr3:10146530

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1559428077

4 SubmittersRCV000767262 RCV002458373 RCV000821822

NM_000551.4(VHL):c.386T>C (p.Leu129Pro)

SNV
Germline

Chr3:10146559

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1559428119

2 SubmittersRCV000767264 RCV001855962

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

SNV
Germline

Chr3:10146606

Pathogenic

Von Hippel-Lindau syndrome

Criteria Provided
Single Submitter

rs_749704215

1 SubmittersRCV000767273

NM_000551.4(VHL):c.497T>A (p.Val166Asp)

SNV
Germline

Chr3:10149820

Pathogenic

Von Hippel-Lindau syndrome

Criteria Provided
Single Submitter

rs_397516445

1 SubmittersRCV000767280

NM_000551.4(VHL):c.509T>A (p.Val170Asp)

SNV
Germline

Chr3:10149832

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_864321642

5 SubmittersRCV000767283 RCV001701154 RCV002334429 RCV002533922

NM_000551.4(VHL):c.529A>T (p.Arg177Ter)

SNV
Germline

Chr3:10149852

Pathogenic

Von Hippel-Lindau syndrome

Criteria Provided
Single Submitter

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

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

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

rs_1559429824

1 SubmittersRCV000767293

NM_000551.4(VHL):c.563T>C (p.Leu188Pro)

SNV
Germline

Chr3:10149886

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

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

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

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

rs_1559426203

2 SubmittersRCV000780788 RCV001039507

NM_000551.4(VHL):c.336C>G (p.Tyr112Ter)

SNV
Germline

Chr3:10142183

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

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

rs_1438223626

2 SubmittersRCV000803089 RCV003153844

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

SNV
Germline

Chr3:10142112

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1575922124

3 SubmittersRCV000807105 RCV003166260 RCV004001694

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

SNV
Germline

Chr3:10146517

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

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

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

Criteria Provided
Conflicting Classifications

rs_370050374

4 SubmittersRCV000815290 RCV001292677 RCV002345864

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

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

Criteria Provided
Conflicting Classifications

rs_1014417508

3 SubmittersRCV000937631 RCV001395391 RCV002363426

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
Von Hippel-Lindau syndrome
Chuvash polycythemia

Criteria Provided
Conflicting Classifications

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
not specified
Congenital Erythrocytosis

Criteria Provided
Conflicting Classifications

rs_1346312258

5 SubmittersRCV001007626 RCV001238805 RCV003320779 RCV003325984

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

SNV
Germline

Chr3:10142092

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_794726890

2 SubmittersRCV001015609 RCV001219698

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

SNV
Germline

Chr3:10149898

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

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

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

rs_1553620326

1 SubmittersRCV001028059

NM_000551.4(VHL):c.42C>T (p.Gly14=)

SNV
Germline

Chr3:10141889

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1696116574

2 SubmittersRCV001061668 RCV002327336

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

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

Criteria Provided
Conflicting Classifications

rs_1480825246

2 SubmittersRCV001042972 RCV004031308

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

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

rs_5030802

1 SubmittersRCV001051596

NM_000551.4(VHL):c.349T>G (p.Trp117Gly)

SNV
Germline

Chr3:10146522

Pathogenic

Chuvash polycythemia
Von Hippel-Lindau syndrome

Criteria Provided
Single Submitter

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

rs_876659313

3 SubmittersRCV001063276 RCV002290579 RCV003160518

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

SNV
Germline

Chr3:10149922

Likely pathogenic

Chuvash polycythemia
Von Hippel-Lindau syndrome

Criteria Provided
Single Submitter

rs_754016774

1 SubmittersRCV001042529

NM_000551.4(VHL):c.340+646A>T

SNV
Germline

Chr3:10142833

Conflicting classifications of pathogenicity

Chuvash polycythemia
Von Hippel-Lindau syndrome
VHL-related disorder

Criteria Provided
Conflicting Classifications

rs_765323685

2 SubmittersRCV001042467 RCV003953440

NM_000551.4(VHL):c.340+578C>T

SNV
Germline

Chr3:10142765

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_139622356

5 SubmittersRCV001053915 RCV002497415 RCV003320798 RCV003316825

NM_000551.4(VHL):c.340+800G>A

SNV
Germline

Chr3:10142987

Conflicting classifications of pathogenicity

Chuvash polycythemia
Von Hippel-Lindau syndrome
VHL-related disorder

Criteria Provided
Conflicting Classifications

rs_999509680

2 SubmittersRCV001055734 RCV003918655

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

rs_1338996432

2 SubmittersRCV001092964 RCV002554860

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

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

rs_1553619289

2 SubmittersRCV001210678 RCV002356899

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

SNV
Germline

Chr3:10142111

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_869025622

2 SubmittersRCV001205532 RCV003163557

NM_000551.4(VHL):c.463+5T>G

SNV
Germline

Chr3:10146641

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1003364563

2 SubmittersRCV001218453 RCV002339573

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

SNV
Germline

Chr3:10141940

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1438911242

2 SubmittersRCV001243676 RCV004034759

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

SNV
Germline

Chr3:10149886

Likely pathogenic

Chuvash polycythemia
Von Hippel-Lindau syndrome

Criteria Provided
Single Submitter

rs_1559429824

1 SubmittersRCV001246640

NM_000551.4(VHL):c.131G>A (p.Gly44Asp)

SNV
Germline

Chr3:10141978

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1056226386

3 SubmittersRCV001300923 RCV002258187

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

rs_1487408934

1 SubmittersRCV001322991

NM_000551.4(VHL):c.340+714G>A

SNV
Germline

Chr3:10142901

Conflicting classifications of pathogenicity

Chuvash polycythemia
Von Hippel-Lindau syndrome
Pheochromocytoma

Criteria Provided
Conflicting Classifications

rs_1054796088

2 SubmittersRCV001323871 RCV001810030

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

SNV
Germline

Chr3:10146538

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1696261924

2 SubmittersRCV001327637 RCV002456464

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

SNV
Germline

Chr3:10146619

Likely pathogenic

Von Hippel-Lindau syndrome
Chuvash polycythemia

Criteria Provided
Single Submitter

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

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

Criteria Provided
Conflicting Classifications

rs_913104799

4 SubmittersRCV001351817 RCV002377495 RCV002486456 RCV004005245

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

SNV
Germline

Chr3:10142761

Likely pathogenic

Von Hippel-Lindau syndrome
Chuvash polycythemia

Criteria Provided
Single Submitter

rs_982745672

1 SubmittersRCV001344145

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

SNV
Germline

Chr3:10149916

Likely pathogenic

Von Hippel-Lindau syndrome
Chuvash polycythemia

Criteria Provided
Single Submitter

rs_869025667

1 SubmittersRCV001377066

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

SNV
Germline

Chr3:10142086

Pathogenic

Von Hippel-Lindau syndrome
Chuvash polycythemia

Criteria Provided
Single Submitter

rs_5030805

1 SubmittersRCV001382228

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

SNV
Germline

Chr3:10146573

Pathogenic

Chuvash polycythemia
Von Hippel-Lindau syndrome

Criteria Provided
Single Submitter

rs_2125128363

1 SubmittersRCV001381653

NM_000551.4(VHL):c.340+621T>C

SNV
Germline

Chr3:10142808

Conflicting classifications of pathogenicity

Chuvash polycythemia
Von Hippel-Lindau syndrome
VHL-related disorder

Criteria Provided
Conflicting Classifications

rs_562162481

2 SubmittersRCV001406624 RCV003416325

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

Criteria Provided
Conflicting Classifications

rs_1051892430

2 SubmittersRCV001411728 RCV003160644

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
Chuvash polycythemia
Von Hippel-Lindau syndrome

Criteria Provided
Multiple Submitters
No Conflicts

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

rs_372483939

3 SubmittersRCV001715376 RCV003968507 RCV003771863

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

SNV
Germline

Chr3:10142091

Pathogenic

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

Criteria Provided
Single Submitter

rs_1214305423

2 SubmittersRCV001724795 RCV003771867

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

SNV
Germline

Chr3:10142089

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_193922608

3 SubmittersRCV001868619 RCV001771461 RCV004040282

NM_000551.4(VHL):c.602T>C (p.Leu201Pro)

SNV
Germline

Chr3:10149925

Likely pathogenic

Von Hippel-Lindau syndrome

No Assertion Criteria Provided

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

rs_964996401

1 SubmittersRCV001786528

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

SNV
Germline

Chr3:10142040

Pathogenic

Chuvash polycythemia
Von Hippel-Lindau syndrome

Criteria Provided
Single Submitter

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

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

rs_2125128340

1 SubmittersRCV002034406

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

SNV
Germline

Chr3:10146637

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_869025657

3 SubmittersRCV001972698 RCV002331532 RCV004044390

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

rs_28940300

2 SubmittersRCV001988653 RCV003464363

NM_000551.4(VHL):c.475A>T (p.Lys159Ter)

SNV
Germline

Chr3:10149798

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1575932011

2 SubmittersRCV002007406 RCV003329425

NM_000551.4(VHL):c.341-11T>A

SNV
Germline

Chr3:10146503

Pathogenic

Chuvash polycythemia
Von Hippel-Lindau syndrome

Criteria Provided
Single Submitter

rs_2125128187

1 SubmittersRCV001956145

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

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

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

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

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
Von Hippel-Lindau syndrome
Chuvash polycythemia

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002357396 RCV003102470

NM_000551.4(VHL):c.406T>G (p.Phe136Val)

SNV
Germline

Chr3:10146579

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002321463 RCV003775806

NM_000551.4(VHL):c.487C>A (p.Leu163Ile)

SNV
Germline

Chr3:10149810

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003775986 RCV002340459

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

2 SubmittersRCV002353321 RCV003103239

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

2 SubmittersRCV002435999 RCV003455513

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

SNV
Germline

Chr3:10146534

Pathogenic

Chuvash polycythemia
Von Hippel-Lindau syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002651639

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

SNV
Germline

Chr3:10149787

Likely pathogenic

Chuvash polycythemia
Von Hippel-Lindau syndrome

Criteria Provided
Single Submitter

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

1 SubmittersRCV002863461

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

SNV
Germline

Chr3:10146512

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

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

1 SubmittersRCV002908478

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

SNV
Germline

Chr3:10146522

Pathogenic

Von Hippel-Lindau syndrome
Chuvash polycythemia

Criteria Provided
Single Submitter

1 SubmittersRCV003017971

NM_000551.4(VHL):c.292T>A (p.Tyr98Asn)

SNV
Germline

Chr3:10142139

Pathogenic

Von Hippel-Lindau syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003388486

NM_000551.4(VHL):c.331A>C (p.Ser111Arg)

SNV
Unknown

Chr3:10142178

Pathogenic

Von Hippel-Lindau syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003450556

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

SNV
Unknown

Chr3:10146513

Pathogenic

Von Hippel-Lindau syndrome

Criteria Provided
Single Submitter

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

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

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

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

1 SubmittersRCV003781002

NM_000551.4(VHL):c.319C>A (p.Arg107Ser)

SNV
Germline

Chr3:10142166

Pathogenic

Chuvash polycythemia
Von Hippel-Lindau syndrome

Criteria Provided
Single Submitter

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

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

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

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

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

1 SubmittersRCV003807570

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

2 SubmittersRCV004440400 RCV004440401