Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_000551.4(VHL):c.548C>A (p.Ser183Ter)	SNV Germline/somatic	Chr3:10149871	Pathogenic	Papillary renal cell carcinoma type 1 Von Hippel-Lindau syndrome Von Hippel-Lindau syndrome Chuvash polycythemia Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA020473	rs_5030823	9 SubmittersRCV000002299 RCV000208867 RCV000703889 RCV003162205 RCV006273043
NM_000551.4(VHL):c.500G>A (p.Arg167Gln)	SNV Germline	Chr3:10149823	Pathogenic	Von Hippel-Lindau syndrome Condition: not provided Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome Chuvash polycythemia Pheochromocytoma Chuvash polycythemia	Reviewed By Expert Panel	CA020454	rs_5030821	20 SubmittersRCV000002300 RCV000325074 RCV000213850 RCV000627745 RCV003448242 RCV004760317
NM_000551.4(VHL):c.481C>T (p.Arg161Ter)	SNV Germline/somatic	Chr3:10149804	Pathogenic	Von Hippel-Lindau syndrome Condition: not provided Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome Chuvash polycythemia Familial infantile myasthenia Hemangioblastoma	Criteria Provided Multiple Submitters No Conflicts	CA020408	rs_5030818	13 SubmittersRCV000002301 RCV000161091 RCV000492225 RCV000791367 RCV001280922 RCV006253446
NM_000551.4(VHL):c.499C>T (p.Arg167Trp)	SNV Germline/somatic	Chr3:10149822	Pathogenic/Likely pathogenic	Von Hippel-Lindau syndrome Pheochromocytoma Hereditary cancer-predisposing syndrome Condition: not provided Von Hippel-Lindau syndrome Chuvash polycythemia Nonpapillary renal cell carcinoma Von Hippel-Lindau syndrome Pheochromocytoma Chuvash polycythemia Chuvash polycythemia	Criteria Provided Multiple Submitters No Conflicts	CA020450	rs_5030820	21 SubmittersRCV000002302 RCV000002303 RCV000132159 RCV000213079 RCV000627746 RCV000763092 RCV003992144
NM_000551.4(VHL):c.499C>G (p.Arg167Gly)	SNV Germline	Chr3:10149822	Pathogenic	Von Hippel-Lindau syndrome Von Hippel-Lindau syndrome Chuvash polycythemia Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA020446	rs_5030820	4 SubmittersRCV000002304 RCV000466046 RCV002336073
NM_000551.4(VHL):c.263G>C (p.Trp88Ser)	SNV Somatic	Chr3:10142110	Pathogenic	Von Hippel-Lindau syndrome	No Assertion Criteria Provided	CA020202	rs_119103277	1 SubmittersRCV000002306
NM_000551.4(VHL):c.405A>C (p.Leu135Phe)	SNV Somatic	Chr3:10146578	Pathogenic	Von Hippel-Lindau syndrome	No Assertion Criteria Provided	CA020338	rs_119103278	1 SubmittersRCV000002307
NM_000551.4(VHL):c.334T>C (p.Tyr112His)	SNV Germline	Chr3:10142181	Pathogenic/Likely pathogenic	Von Hippel-Lindau syndrome Von Hippel-Lindau syndrome Chuvash polycythemia Hereditary cancer-predisposing syndrome VHL-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA020277	rs_104893824	8 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 Chuvash polycythemia Von Hippel-Lindau syndrome Condition: not provided VHL-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA020246	rs_5030809	17 SubmittersRCV000002309 RCV000492094 RCV000684783 RCV000679029 RCV003891425
NM_000551.4(VHL):c.496G>T (p.Val166Phe)	SNV Germline	Chr3:10149819	Pathogenic	Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome Chuvash polycythemia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA020436	rs_104893825	4 SubmittersRCV000002310 RCV000220823 RCV001851578 RCV002288459
NM_000551.4(VHL):c.191G>C (p.Arg64Pro)	SNV Germline	Chr3:10142038	Pathogenic	Pheochromocytoma Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome Von Hippel-Lindau syndrome Chuvash polycythemia Condition: not provided	Reviewed By Expert Panel	CA020089	rs_104893826	8 SubmittersRCV000002314 RCV000132356 RCV000208872 RCV000475973 RCV000679019
NM_000551.4(VHL):c.334T>A (p.Tyr112Asn)	SNV Germline	Chr3:10142181	Pathogenic	Von Hippel-Lindau syndrome Von Hippel-Lindau syndrome Chuvash polycythemia	Criteria Provided Multiple Submitters No Conflicts	CA020273	rs_104893824	4 SubmittersRCV000002316 RCV005222659
NM_000551.4(VHL):c.388G>C (p.Val130Leu)	SNV Germline	Chr3:10146561	Pathogenic	Chuvash polycythemia Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome Chuvash polycythemia	Criteria Provided Multiple Submitters No Conflicts	CA020325	rs_104893830	5 SubmittersRCV000002317 RCV000030586 RCV000492250 RCV001071915
NM_000551.4(VHL):c.376G>T (p.Asp126Tyr)	SNV Germline	Chr3:10146549	Likely pathogenic	Chuvash polycythemia Von Hippel-Lindau syndrome Chuvash polycythemia	Criteria Provided Single Submitter	CA020319	rs_104893831	2 SubmittersRCV000002318 RCV001236092
NM_000551.4(VHL):c.488T>C (p.Leu163Pro)	SNV Germline	Chr3:10149811	Likely pathogenic	RENAL CELL CARCINOMA WITH PARANEOPLASTIC ERYTHROCYTOSIS Von Hippel-Lindau syndrome Chuvash polycythemia Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome	Criteria Provided Multiple Submitters No Conflicts	CA020423	rs_28940297	4 SubmittersRCV000002319 RCV001231697 RCV003298026 RCV004018540
NM_000551.4(VHL):c.598C>T (p.Arg200Trp)	SNV Germline	Chr3:10149921	Conflicting classifications of pathogenicity	Chuvash polycythemia Von Hippel-Lindau syndrome not specified Condition: not provided Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome Chuvash polycythemia Acute leukemia of ambiguous lineage Nonpapillary renal cell carcinoma Nonpapillary renal cell carcinoma Von Hippel-Lindau syndrome Pheochromocytoma Chuvash polycythemia VHL-related disorder Inherited phaeochromocytoma and paraganglioma excluding NF1	Criteria Provided Conflicting Classifications	CA020510	rs_28940298	30 SubmittersRCV000002320 RCV000148922 RCV000122262 RCV000161094 RCV000574264 RCV000627742 RCV000722031 RCV002247239 RCV005024991 RCV004742206 RCV005865151
NM_000551.4(VHL):c.574C>T (p.Pro192Ser)	SNV Germline	Chr3:10149897	Conflicting classifications of pathogenicity	Chuvash polycythemia Condition: not provided Von Hippel-Lindau syndrome Chuvash polycythemia Hereditary cancer-predisposing syndrome Nonpapillary renal cell carcinoma Von Hippel-Lindau syndrome Pheochromocytoma Chuvash polycythemia Von Hippel-Lindau syndrome	Criteria Provided Conflicting Classifications	CA020501	rs_28940300	8 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/somatic	Chr3:10142124	Pathogenic	Pheochromocytoma Von Hippel-Lindau syndrome Von Hippel-Lindau syndrome Chuvash polycythemia Hereditary cancer-predisposing syndrome Chuvash polycythemia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA020230	rs_5030808	8 SubmittersRCV000002325 RCV000208813 RCV000698471 RCV002433441 RCV003460405 RCV004998072
NM_000551.4(VHL):c.491A>G (p.Gln164Arg)	SNV Germline	Chr3:10149814	Pathogenic	Von Hippel-Lindau syndrome Von Hippel-Lindau syndrome Chuvash polycythemia Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA020429	rs_267607170	5 SubmittersRCV000002326 RCV001052383 RCV001023261
NM_003000.3(SDHB):c.268C>T (p.Arg90Ter)	SNV Germline	Chr1:17033078	Pathogenic	Pheochromocytoma/paraganglioma syndrome 4 Hereditary pheochromocytoma and paraganglioma Hereditary cancer-predisposing syndrome Condition: not provided Pheochromocytoma/paraganglioma syndrome 4 Pheochromocytoma Gastrointestinal stromal tumor Carney-Stratakis syndrome Pheochromocytoma/paraganglioma syndrome 4 Pheochromocytoma Von Hippel-Lindau syndrome	Criteria Provided Multiple Submitters No Conflicts	CA015643	rs_74315366	16 SubmittersRCV000013616 RCV000037718 RCV000215883 RCV000183211 RCV000627749 RCV000763272 RCV003233026
NM_000551.4(VHL):c.242C>T (p.Pro81Leu)	SNV Germline	Chr3:10142089	Pathogenic/Likely pathogenic	Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome Chuvash polycythemia Condition: not provided Chuvash polycythemia Inherited phaeochromocytoma and paraganglioma excluding NF1	Criteria Provided Multiple Submitters No Conflicts	CA020154	rs_193922608	13 SubmittersRCV000030582 RCV000129974 RCV001034657 RCV001547784 RCV003460493 RCV005865196
NM_000551.4(VHL):c.320G>C (p.Arg107Pro)	SNV Germline	Chr3:10142167	Pathogenic/Likely pathogenic	Von Hippel-Lindau syndrome Condition: not provided Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome Chuvash polycythemia	Criteria Provided Multiple Submitters No Conflicts	CA020262	rs_193922609	5 SubmittersRCV000030583 RCV000486047 RCV000492682 RCV000816283
NM_000551.4(VHL):c.371C>T (p.Thr124Ile)	SNV Germline	Chr3:10146544	Pathogenic/Likely pathogenic	Condition: not provided Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome Chuvash polycythemia Hereditary pheochromocytoma and paraganglioma Nonpapillary renal cell carcinoma Von Hippel-Lindau syndrome Chuvash polycythemia Pheochromocytoma	Criteria Provided Multiple Submitters No Conflicts	CA020308	rs_193922610	6 SubmittersRCV000679036 RCV004678597 RCV005222710 RCV005237435 RCV005394178
NM_000551.4(VHL):c.458T>A (p.Leu153Gln)	SNV Germline	Chr3:10146631	Pathogenic/Likely pathogenic	Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome Chuvash polycythemia	Criteria Provided Multiple Submitters No Conflicts	CA020365	rs_193922611	3 SubmittersRCV000030587 RCV001022748 RCV006555351
NM_000551.4(VHL):c.524A>G (p.Tyr175Cys)	SNV Germline	Chr3:10149847	Pathogenic/Likely pathogenic	Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome Chuvash polycythemia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA020462	rs_193922613	5 SubmittersRCV000030589 RCV000492408 RCV000533687 RCV004700288
NM_000551.4(VHL):c.194C>G (p.Ser65Trp)	SNV Germline	Chr3:10142041	Pathogenic	Von Hippel-Lindau syndrome Condition: not provided Von Hippel-Lindau syndrome Chuvash polycythemia Hereditary cancer-predisposing syndrome	Reviewed By Expert Panel	CA020099	rs_5030826	12 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 Von Hippel-Lindau syndrome Chuvash polycythemia Nonpapillary renal cell carcinoma Von Hippel-Lindau syndrome Pheochromocytoma Chuvash polycythemia	Criteria Provided Multiple Submitters No Conflicts	CA020108	rs_5030802	9 SubmittersRCV000036540 RCV000492137 RCV001379599 RCV005394221
NM_000551.4(VHL):c.319C>G (p.Arg107Gly)	SNV Germline	Chr3:10142166	Pathogenic/Likely pathogenic	Von Hippel-Lindau syndrome Pheochromocytoma Von Hippel-Lindau syndrome Chuvash polycythemia Nonpapillary renal cell carcinoma Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA020257	rs_397516440	3 SubmittersRCV000036542 RCV000763091 RCV002321506
NM_000551.4(VHL):c.467A>G (p.Tyr156Cys)	SNV Germline	Chr3:10149790	Pathogenic/Likely pathogenic	Von Hippel-Lindau syndrome Condition: not provided Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome Chuvash polycythemia	Criteria Provided Multiple Submitters No Conflicts	CA020394	rs_397516441	8 SubmittersRCV000036543 RCV000487045 RCV000492752 RCV000631280
NM_000551.4(VHL):c.463+2T>G	SNV Germline	Chr3:10146638	Likely pathogenic	Von Hippel-Lindau syndrome	No Assertion Criteria Provided	CA020373	rs_5030814	1 SubmittersRCV000036545
NM_000551.4(VHL):c.464-1G>A	SNV Germline	Chr3:10149786	Pathogenic/Likely pathogenic	Von Hippel-Lindau syndrome Condition: not provided Von Hippel-Lindau syndrome Chuvash polycythemia Hereditary cancer-predisposing syndrome Nonpapillary renal cell carcinoma Von Hippel-Lindau syndrome Pheochromocytoma Chuvash polycythemia	Criteria Provided Multiple Submitters No Conflicts	CA020389	rs_5030817	6 SubmittersRCV000036546 RCV000724861 RCV001067480 RCV004948143 RCV005031474
NM_000551.4(VHL):c.485G>T (p.Cys162Phe)	SNV Germline	Chr3:10149808	Pathogenic	Von Hippel-Lindau syndrome Von Hippel-Lindau syndrome Chuvash polycythemia	Criteria Provided Multiple Submitters No Conflicts	CA020418	rs_397516444	5 SubmittersRCV000036548 RCV002513389
NM_000551.4(VHL):c.497T>C (p.Val166Ala)	SNV Germline	Chr3:10149820	Pathogenic/Likely pathogenic	Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA020442	rs_397516445	5 SubmittersRCV000036549 RCV001023359 RCV001701727
NM_000551.4(VHL):c.233A>G (p.Asn78Ser)	SNV Germline	Chr3:10142080	Pathogenic	Von Hippel-Lindau syndrome Condition: not provided Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome Chuvash polycythemia	Reviewed By Expert Panel	CA020131	rs_5030804	12 SubmittersRCV000079207 RCV000254892 RCV000492165 RCV001034687
NM_000551.4(VHL):c.256C>G (p.Pro86Ala)	SNV Germline	Chr3:10142103	Pathogenic/Likely pathogenic	Von Hippel-Lindau syndrome Condition: not provided Von Hippel-Lindau syndrome Chuvash polycythemia Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA020174	rs_398123481	5 SubmittersRCV000079208 RCV000723702 RCV001227827 RCV004686575
NM_000551.4(VHL):c.326T>A (p.Ile109Asn)	SNV Germline	Chr3:10142173	Conflicting classifications of pathogenicity	Condition: not provided Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA020268	rs_398123482	4 SubmittersRCV000079209 RCV000767256 RCV002321574
NM_000243.3(MEFV):c.265G>A (p.Ala89Thr)	SNV Germline	Chr16:3256323	Conflicting classifications of pathogenicity	Familial Mediterranean fever not specified Acute febrile neutrophilic dermatosis Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant Von Hippel-Lindau syndrome	Criteria Provided Conflicting Classifications	CA280577	rs_104895124	8 SubmittersRCV000083765 RCV002281918 RCV002483164 RCV003126470 RCV003126469 RCV005862973
NM_000551.4(VHL):c.629G>A (p.Arg210Gln)	SNV Germline	Chr3:10149952	Conflicting classifications of pathogenicity	Condition: not provided Von Hippel-Lindau syndrome Chuvash polycythemia Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome not specified VHL-related disorder	Criteria Provided Conflicting Classifications	CA020530	rs_138780791	12 SubmittersRCV000115743 RCV000119153 RCV000627744 RCV000492305 RCV002267856 RCV003935103
NM_000551.4(VHL):c.445G>T (p.Ala149Ser)	SNV Germline	Chr3:10146618	Pathogenic	Condition: not provided Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome Chuvash polycythemia	Criteria Provided Multiple Submitters No Conflicts	CA020355	rs_587780077	5 SubmittersRCV000115746 RCV000208783 RCV000492260 RCV001854559
NM_000551.4(VHL):c.3G>A (p.Met1Ile)	SNV Germline	Chr3:10141850	Conflicting classifications of pathogenicity	not specified Von Hippel-Lindau syndrome Chuvash polycythemia Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome Condition: not provided Chuvash polycythemia Nonpapillary renal cell carcinoma Pheochromocytoma Von Hippel-Lindau syndrome	Criteria Provided Conflicting Classifications	CA020331	rs_578091032	14 SubmittersRCV000122260 RCV000409700 RCV000467198 RCV000492595 RCV000657025 RCV002483231
NM_000551.4(VHL):c.558A>C (p.Glu186Asp)	SNV Germline	Chr3:10149881	Conflicting classifications of pathogenicity	not specified Von Hippel-Lindau syndrome Chuvash polycythemia Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA020484	rs_587778744	3 SubmittersRCV000122261 RCV001038969 RCV003162559
NM_000551.4(VHL):c.191G>A (p.Arg64His)	SNV Germline	Chr3:10142038	Conflicting classifications of pathogenicity	Chuvash polycythemia Von Hippel-Lindau syndrome Condition: not provided Hereditary cancer-predisposing syndrome Chuvash polycythemia Von Hippel-Lindau syndrome	Criteria Provided Conflicting Classifications	CA020083	rs_104893826	6 SubmittersRCV000123103 RCV001588972 RCV004678616 RCV004567063 RCV004804123
NM_000551.4(VHL):c.25G>A (p.Asp9Asn)	SNV Germline	Chr3:10141872	Conflicting classifications of pathogenicity	Von Hippel-Lindau syndrome Chuvash polycythemia Von Hippel-Lindau syndrome Condition: not provided Hereditary cancer-predisposing syndrome Chuvash polycythemia VHL-related disorder	Criteria Provided Conflicting Classifications	CA020190	rs_587780730	11 SubmittersRCV000123104 RCV000524493 RCV001657771 RCV002426672 RCV003460872 RCV004742271
NM_000551.4(VHL):c.274G>T (p.Asp92Tyr)	SNV Germline	Chr3:10142121	Conflicting classifications of pathogenicity	Chuvash polycythemia Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome Chuvash polycythemia Nonpapillary renal cell carcinoma Pheochromocytoma Von Hippel-Lindau syndrome	Criteria Provided Conflicting Classifications	CA020217	rs_587780731	5 SubmittersRCV000123105 RCV001016495 RCV004786385 RCV005025201
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.256C>T (p.Pro86Ser)	SNV Germline	Chr3:10142103	Pathogenic/Likely pathogenic	Von Hippel-Lindau syndrome Condition: not provided Hereditary cancer-predisposing syndrome Chuvash polycythemia Von Hippel-Lindau syndrome Chuvash polycythemia	Criteria Provided Multiple Submitters No Conflicts	CA020180	rs_398123481	9 SubmittersRCV000155449 RCV000413630 RCV000492763 RCV001059327 RCV004813063
NM_000551.4(VHL):c.351G>T (p.Trp117Cys)	SNV Germline	Chr3:10146524	Pathogenic	Von Hippel-Lindau syndrome Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA020294	rs_727504215	4 SubmittersRCV000154124 RCV000723964 RCV001020510
NM_000551.4(VHL):c.-5A>C	SNV Germline	Chr3:10141843	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided not specified Chuvash polycythemia Von Hippel-Lindau syndrome Von Hippel-Lindau syndrome	Criteria Provided Conflicting Classifications	CA020514	rs_35793832	10 SubmittersRCV000566000 RCV000679011 RCV001818360 RCV002053943 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 Von Hippel-Lindau syndrome Nonpapillary renal cell carcinoma Chuvash polycythemia Pheochromocytoma Von Hippel-Lindau syndrome Nonpapillary renal cell carcinoma	Criteria Provided Conflicting Classifications	CA020518	rs_111246617	14 SubmittersRCV000161089 RCV000168429 RCV000294881 RCV000492422 RCV000781920 RCV003416030 RCV005359388 RCV005025251
NM_000551.4(VHL):c.194C>T (p.Ser65Leu)	SNV Germline	Chr3:10142041	Pathogenic	Pancreatic cysts Cerebellar hemangioblastoma Retinal capillary hemangioma Spinal hemangioblastoma Chuvash polycythemia Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA020104	rs_5030826	4 SubmittersRCV000626711 RCV001389259 RCV004948200
NM_000551.4(VHL):c.227T>C (p.Phe76Ser)	SNV Germline	Chr3:10142074	Conflicting classifications of pathogenicity	Von Hippel-Lindau syndrome Chuvash polycythemia Von Hippel-Lindau syndrome	Criteria Provided Conflicting Classifications	CA020125	rs_730882033	2 SubmittersRCV000767238 RCV006555516
NM_000551.4(VHL):c.257C>T (p.Pro86Leu)	SNV Germline	Chr3:10142104	Pathogenic	Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome Chuvash polycythemia Von Hippel-Lindau syndrome	Reviewed By Expert Panel	CA020186	rs_730882034	6 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 Chuvash polycythemia Von Hippel-Lindau syndrome	Reviewed By Expert Panel	CA020197	rs_119103277	8 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	Chr3:10142188	Pathogenic/Likely pathogenic	Von Hippel-Lindau syndrome Chuvash polycythemia Von Hippel-Lindau syndrome Condition: not provided Clear cell carcinoma of kidney Thyroid cancer, nonmedullary, 1	Criteria Provided Multiple Submitters No Conflicts	CA020282	rs_730882032	4 SubmittersRCV000589885 RCV001850279 RCV003328124 RCV005888583 RCV005888584
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 VHL-related disorder Inherited phaeochromocytoma and paraganglioma excluding NF1 Chuvash polycythemia Pheochromocytoma Von Hippel-Lindau syndrome Nonpapillary renal cell carcinoma	Criteria Provided Multiple Submitters No Conflicts	CA020413	rs_730882035	14 SubmittersRCV000161092 RCV000208848 RCV000456958 RCV000563066 RCV004742286 RCV005865254 RCV005394565
NM_000551.4(VHL):c.525C>G (p.Tyr175Ter)	SNV Germline	Chr3:10149848	Pathogenic	Von Hippel-Lindau syndrome Chuvash polycythemia Von Hippel-Lindau syndrome	Criteria Provided Multiple Submitters No Conflicts	CA020466	rs_5030835	2 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 VHL-related disorder	Criteria Provided Conflicting Classifications	CA020534	rs_200019083	13 SubmittersRCV000161101 RCV000287076 RCV000541199 RCV001025130 RCV001704152 RCV004742287
NM_000551.4(VHL):c.209A>G (p.Glu70Gly)	SNV Germline	Chr3:10142056	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Chuvash polycythemia Von Hippel-Lindau syndrome Condition: not provided Chuvash polycythemia Chuvash polycythemia Pheochromocytoma Von Hippel-Lindau syndrome Nonpapillary renal cell carcinoma	Criteria Provided Conflicting Classifications	CA020113	rs_786202857	5 SubmittersRCV000165891 RCV000227354 RCV001545934 RCV003462191 RCV005025264
NM_000551.4(VHL):c.238A>G (p.Ser80Gly)	SNV Germline	Chr3:10142085	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Chuvash polycythemia Von Hippel-Lindau syndrome Von Hippel-Lindau syndrome	Criteria Provided Multiple Submitters No Conflicts	CA020142	rs_786202787	4 SubmittersRCV000165774 RCV001388793 RCV002307423
NM_000551.4(VHL):c.275A>T (p.Asp92Val)	SNV Germline	Chr3:10142122	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome Chuvash polycythemia Von Hippel-Lindau syndrome Condition: not provided Chuvash polycythemia Pheochromocytoma Von Hippel-Lindau syndrome Nonpapillary renal cell carcinoma Chuvash polycythemia VHL-related disorder	Criteria Provided Conflicting Classifications	CA020224	rs_749091984	10 SubmittersRCV000163954 RCV000412307 RCV000525495 RCV000679028 RCV002485013 RCV003462123 RCV003389706
NM_000551.4(VHL):c.245G>C (p.Arg82Pro)	SNV Germline	Chr3:10142092	Pathogenic	Von Hippel-Lindau syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA020159	rs_794726890	3 SubmittersRCV000173161 RCV000724457
NM_000551.4(VHL):c.586A>T (p.Lys196Ter)	SNV Germline	Chr3:10149909	Pathogenic	Von Hippel-Lindau syndrome Condition: not provided Chuvash polycythemia Von Hippel-Lindau syndrome	Reviewed By Expert Panel	CA020507	rs_281860296	6 SubmittersRCV000177084 RCV000724622 RCV003765094
NM_000551.4(VHL):c.416C>T (p.Ser139Phe)	SNV Germline	Chr3:10146589	Conflicting classifications of pathogenicity	Chuvash polycythemia Von Hippel-Lindau syndrome Chuvash polycythemia Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA336394	rs_587780732	3 SubmittersRCV001317982 RCV003462331 RCV004020464
NM_000551.4(VHL):c.293A>C (p.Tyr98Ser)	SNV Germline	Chr3:10142140	Pathogenic/Likely pathogenic	Pheochromocytoma Von Hippel-Lindau syndrome Chuvash polycythemia Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA279916	rs_864321643	5 SubmittersRCV000203508 RCV000208847 RCV001064921 RCV002433899 RCV004721296
NM_000551.4(VHL):c.307C>G (p.Pro103Ala)	SNV Germline	Chr3:10142154	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Chuvash polycythemia Von Hippel-Lindau syndrome	Criteria Provided Conflicting Classifications	CA348715	rs_864622267	2 SubmittersRCV001018501 RCV001370713
NM_000551.4(VHL):c.321C>T (p.Arg107=)	SNV Germline	Chr3:10142168	Conflicting classifications of pathogenicity	Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA348868	rs_864622334	2 SubmittersRCV000204667 RCV004948213
NM_000551.4(VHL):c.337C>T (p.Arg113Ter)	SNV Germline	Chr3:10142184	Pathogenic	Von Hippel-Lindau syndrome Chuvash polycythemia Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA348491	rs_5030810	4 SubmittersRCV000204250 RCV000456132 RCV003165497 RCV006263756
NM_000551.4(VHL):c.544A>G (p.Arg182Gly)	SNV Germline	Chr3:10149867	Conflicting classifications of pathogenicity	Chuvash polycythemia Von Hippel-Lindau syndrome Condition: not provided Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome Chuvash polycythemia Chuvash polycythemia Nonpapillary renal cell carcinoma Pheochromocytoma Von Hippel-Lindau syndrome	Criteria Provided Conflicting Classifications	CA041490	rs_778205243	9 SubmittersRCV000204757 RCV000235376 RCV000663322 RCV001024120 RCV004567477 RCV005031779
NM_000551.4(VHL):c.628C>T (p.Arg210Trp)	SNV Germline	Chr3:10149951	Conflicting classifications of pathogenicity	Chuvash polycythemia Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome Condition: not provided Maffucci syndrome Chuvash polycythemia Chuvash polycythemia Nonpapillary renal cell carcinoma Pheochromocytoma Von Hippel-Lindau syndrome not specified	Criteria Provided Conflicting Classifications	CA041992	rs_774380450	11 SubmittersRCV000204248 RCV000568942 RCV000662950 RCV001582712 RCV002467673 RCV003468958 RCV005031778 RCV005230083
NM_000551.4(VHL):c.193T>G (p.Ser65Ala)	SNV Germline/somatic	Chr3:10142040	Likely pathogenic	Von Hippel-Lindau syndrome Pheochromocytoma	No Assertion Criteria Provided	CA357048	rs_869025616	2 SubmittersRCV000208812 RCV006253891
NM_000551.4(VHL):c.194C>A (p.Ser65Ter)	SNV Germline	Chr3:10142041	Pathogenic	Von Hippel-Lindau syndrome Chuvash polycythemia Von Hippel-Lindau syndrome Chuvash polycythemia Condition: not provided Hereditary cancer-predisposing syndrome Clear cell carcinoma of kidney	Criteria Provided Multiple Submitters No Conflicts	CA357085	rs_5030826	8 SubmittersRCV000208831 RCV001213116 RCV002509303 RCV003233497 RCV005761983 RCV005893810
NM_000551.4(VHL):c.203C>A (p.Ser68Ter)	SNV Germline	Chr3:10142050	Pathogenic	Von Hippel-Lindau syndrome Chuvash polycythemia Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA357051	rs_869025617	3 SubmittersRCV000208815 RCV001389820 RCV004948217
NM_000551.4(VHL):c.214T>C (p.Ser72Pro)	SNV Germline	Chr3:10142061	Pathogenic/Likely pathogenic	Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome Chuvash polycythemia Von Hippel-Lindau syndrome	Criteria Provided Multiple Submitters No Conflicts	CA357006	rs_869025618	4 SubmittersRCV000208787 RCV000492124 RCV001382227
NM_000551.4(VHL):c.217C>T (p.Gln73Ter)	SNV Germline	Chr3:10142064	Pathogenic	Von Hippel-Lindau syndrome Condition: not provided Chuvash polycythemia Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA357036	rs_869025619	4 SubmittersRCV000208804 RCV000679022 RCV001218191 RCV005771954
NM_000551.4(VHL):c.232A>T (p.Asn78Tyr)	SNV Germline	Chr3:10142079	Likely pathogenic	Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Single Submitter	CA357056	rs_869025621	2 SubmittersRCV000208818 RCV000568344
NM_000551.4(VHL):c.233A>C (p.Asn78Thr)	SNV Germline	Chr3:10142080	Pathogenic	Von Hippel-Lindau syndrome Condition: not provided Chuvash polycythemia Von Hippel-Lindau syndrome	Criteria Provided Multiple Submitters No Conflicts	CA357095	rs_5030804	3 SubmittersRCV000208838 RCV000679024 RCV000805326
NM_000551.4(VHL):c.233A>T (p.Asn78Ile)	SNV Germline	Chr3:10142080	Likely pathogenic	Von Hippel-Lindau syndrome Von Hippel-Lindau syndrome Chuvash polycythemia	Criteria Provided Single Submitter	CA357063	rs_5030804	2 SubmittersRCV000208821 RCV000803184
NM_000551.4(VHL):c.257C>G (p.Pro86Arg)	SNV Germline	Chr3:10142104	Pathogenic/Likely pathogenic	Von Hippel-Lindau syndrome 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	Likely pathogenic	Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome Chuvash polycythemia Von Hippel-Lindau syndrome	Reviewed By Expert Panel	CA357078	rs_869025622	5 SubmittersRCV000208827 RCV000492552 RCV000537014
NM_000551.4(VHL):c.269A>T (p.Asn90Ile)	SNV Germline	Chr3:10142116	Likely pathogenic	Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Single Submitter	CA357043	rs_143985153	2 SubmittersRCV000208809 RCV002426982
NM_000551.4(VHL):c.277G>C (p.Gly93Arg)	SNV Germline	Chr3:10142124	Pathogenic/Likely pathogenic	Von Hippel-Lindau syndrome Chuvash polycythemia Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA357130	rs_5030808	3 SubmittersRCV000208861 RCV001035237 RCV002433917
NM_000551.4(VHL):c.277G>T (p.Gly93Cys)	SNV Germline	Chr3:10142124	Pathogenic	Von Hippel-Lindau syndrome	No Assertion Criteria Provided	CA357106	rs_5030808	1 SubmittersRCV000208845
NM_000551.4(VHL):c.293A>G (p.Tyr98Cys)	SNV Germline	Chr3:10142140	Pathogenic	Von Hippel-Lindau syndrome Condition: not provided Chuvash polycythemia Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA357072	rs_864321643	5 SubmittersRCV000208825 RCV001357107 RCV001218807 RCV005771955
NM_000551.4(VHL):c.311G>T (p.Gly104Val)	SNV Germline	Chr3:10142158	Conflicting classifications of pathogenicity	Von Hippel-Lindau syndrome Condition: not provided Chuvash polycythemia Von Hippel-Lindau syndrome	Criteria Provided Conflicting Classifications	CA357033	rs_869025630	6 SubmittersRCV000208803 RCV000679030 RCV005222830
NM_000551.4(VHL):c.320G>A (p.Arg107His)	SNV Germline	Chr3:10142167	Pathogenic	Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome Chuvash polycythemia Von Hippel-Lindau syndrome VHL-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA357135	rs_193922609	4 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 Chuvash polycythemia Von Hippel-Lindau syndrome	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	Pathogenic/Likely pathogenic	Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome Chuvash polycythemia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA357115	rs_869025633	6 SubmittersRCV000208852 RCV000219736 RCV000631262 RCV001289414
NM_000551.4(VHL):c.340G>C (p.Gly114Arg)	SNV Germline	Chr3:10142187	Pathogenic	Von Hippel-Lindau syndrome Chuvash polycythemia Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA357101	rs_869025636	4 SubmittersRCV000208843 RCV003765349 RCV005512713
NM_000551.4(VHL):c.340+1G>A	SNV Germline	Chr3:10142188	Pathogenic	Von Hippel-Lindau syndrome Chuvash polycythemia Von Hippel-Lindau syndrome Condition: not provided Hereditary cancer-predisposing syndrome Clear cell carcinoma of kidney	Criteria Provided Multiple Submitters No Conflicts	CA357042	rs_730882032	6 SubmittersRCV000208808 RCV001044454 RCV001701877 RCV004020566 RCV005893811
NM_000551.4(VHL):c.341-2A>G	SNV Germline	Chr3:10146512	Pathogenic	Von Hippel-Lindau syndrome Chuvash polycythemia Von Hippel-Lindau syndrome	Reviewed By Expert Panel	CA357004	rs_869025637	4 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	Likely pathogenic	Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Single Submitter	CA357127	rs_869025643	2 SubmittersRCV000208860 RCV004678642
NM_000551.4(VHL):c.414A>G (p.Pro138=)	SNV Germline	Chr3:10146587	Pathogenic	Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome Chuvash polycythemia Von Hippel-Lindau syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA357138	rs_869025648	7 SubmittersRCV000216698 RCV000208865 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 Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA357109	rs_869025650	3 SubmittersRCV000208850 RCV000692586 RCV004948219
NM_000551.4(VHL):c.445G>A (p.Ala149Thr)	SNV Germline	Chr3:10146618	Pathogenic	Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Single Submitter	CA357066	rs_587780077	2 SubmittersRCV000208822 RCV002327073
NM_000551.4(VHL):c.445G>C (p.Ala149Pro)	SNV Germline	Chr3:10146618	Pathogenic	Von Hippel-Lindau syndrome 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/Likely pathogenic	Von Hippel-Lindau syndrome Chuvash polycythemia Von Hippel-Lindau syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA357026	rs_869025659	4 SubmittersRCV000208799 RCV002515564 RCV004596112
NM_000551.4(VHL):c.463+1G>C	SNV Germline	Chr3:10146637	Likely pathogenic	Von Hippel-Lindau syndrome Clear cell carcinoma of kidney Hereditary cancer-predisposing syndrome	Criteria Provided Single Submitter	CA357023	rs_869025657	3 SubmittersRCV000208796 RCV005893812 RCV005298462
NM_000551.4(VHL):c.464-2A>G	SNV Germline	Chr3:10149785	Pathogenic	Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome Chuvash polycythemia Von Hippel-Lindau syndrome Chuvash polycythemia Nonpapillary renal cell carcinoma Pheochromocytoma Von Hippel-Lindau syndrome Condition: not provided VHL-related disorder Clear cell carcinoma of kidney Familial prostate cancer	Criteria Provided Multiple Submitters No Conflicts	CA357046	rs_5030816	7 SubmittersRCV000208810 RCV000216737 RCV000824251 RCV001535844 RCV001542804 RCV004725066 RCV005893816 RCV005893817
NM_000551.4(VHL):c.464-1G>C	SNV Germline	Chr3:10149786	Pathogenic	Von Hippel-Lindau syndrome Condition: not provided Clear cell carcinoma of kidney Nonpapillary renal cell carcinoma	Criteria Provided Single Submitter	CA357081	rs_5030817	4 SubmittersRCV000208828 RCV001706206 RCV005893814 RCV005893813
NM_000551.4(VHL):c.464-1G>T	SNV Germline	Chr3:10149786	Pathogenic/Likely pathogenic	Von Hippel-Lindau syndrome Chuvash polycythemia Von Hippel-Lindau syndrome Condition: not provided Hereditary cancer-predisposing syndrome Clear cell carcinoma of kidney	Criteria Provided Multiple Submitters No Conflicts	CA357144	rs_5030817	5 SubmittersRCV000208870 RCV001853330 RCV003329261 RCV005298463 RCV005893815
NM_000551.4(VHL):c.470C>T (p.Thr157Ile)	SNV Germline/somatic	Chr3:10149793	Pathogenic	Von Hippel-Lindau syndrome Condition: not provided Hereditary cancer-predisposing syndrome Pheochromocytoma	Criteria Provided Multiple Submitters No Conflicts	CA357133	rs_869025660	4 SubmittersRCV000208862 RCV001289415 RCV004678643 RCV006253892
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/Likely pathogenic	Von Hippel-Lindau syndrome Chuvash polycythemia Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA357016	rs_5030622	7 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 Chuvash polycythemia Von Hippel-Lindau syndrome Chuvash polycythemia Nonpapillary renal cell carcinoma Pheochromocytoma Von Hippel-Lindau syndrome VHL-related disorder Chuvash polycythemia Hereditary cancer	Criteria Provided Conflicting Classifications	CA041601	rs_561874453	14 SubmittersRCV000208797 RCV000236099 RCV000565491 RCV000631260 RCV002485365 RCV003422117 RCV003462397 RCV005230091
NM_000551.4(VHL):c.555C>G (p.Tyr185Ter)	SNV Germline	Chr3:10149878	Pathogenic	Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome Chuvash polycythemia Von Hippel-Lindau syndrome	Criteria Provided Multiple Submitters No Conflicts	CA357075	rs_864622109	3 SubmittersRCV000208826 RCV000219064 RCV001377065
NM_000551.4(VHL):c.593T>C (p.Leu198Pro)	SNV Germline	Chr3:10149916	Pathogenic/Likely pathogenic	Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA357145	rs_869025667	4 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 Chuvash polycythemia Von Hippel-Lindau syndrome	Criteria Provided Multiple Submitters No Conflicts	CA10578180	rs_5030827	6 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 Chuvash polycythemia Von Hippel-Lindau syndrome Nonpapillary renal cell carcinoma Pheochromocytoma	Criteria Provided Conflicting Classifications	CA040825	rs_578091032	11 SubmittersRCV000228663 RCV000236708 RCV000411808 RCV000562501 RCV002307459 RCV002487052
NM_000551.4(VHL):c.7C>T (p.Arg3Trp)	SNV Germline	Chr3:10141854	Conflicting classifications of pathogenicity	Chuvash polycythemia Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome Condition: not provided Von Hippel-Lindau syndrome	Criteria Provided Conflicting Classifications	CA10582110	rs_878854130	5 SubmittersRCV000226904 RCV002418000 RCV003226914 RCV005401394
NM_000551.4(VHL):c.134C>G (p.Pro45Arg)	SNV Germline	Chr3:10141981	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Chuvash polycythemia Von Hippel-Lindau syndrome Von Hippel-Lindau syndrome	Criteria Provided Conflicting Classifications	CA039433	rs_199583685	7 SubmittersRCV000236098 RCV001011022 RCV001081208 RCV003998847
NM_000551.4(VHL):c.172C>T (p.Arg58Trp)	SNV Germline	Chr3:10142019	Conflicting classifications of pathogenicity	Chuvash polycythemia Von Hippel-Lindau syndrome Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome Chuvash polycythemia Von Hippel-Lindau syndrome Nonpapillary renal cell carcinoma Pheochromocytoma Condition: not provided	Criteria Provided Conflicting Classifications	CA039640	rs_757781272	8 SubmittersRCV000230639 RCV000663291 RCV001012878 RCV002500764 RCV003151759
NM_000551.4(VHL):c.541G>A (p.Val181Ile)	SNV Germline	Chr3:10149864	Conflicting classifications of pathogenicity	Chuvash polycythemia Von Hippel-Lindau syndrome Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA10582117	rs_878854127	8 SubmittersRCV000229544 RCV000662874 RCV002257540 RCV002465580 RCV003153527
NM_000551.4(VHL):c.463+4C>T	SNV Germline	Chr3:10146640	Conflicting classifications of pathogenicity	Von Hippel-Lindau syndrome Chuvash polycythemia Condition: not provided Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome Pheochromocytoma Von Hippel-Lindau syndrome Chuvash polycythemia Nonpapillary renal cell carcinoma	Criteria Provided Conflicting Classifications	CA10584230	rs_879253989	6 SubmittersRCV000560865 RCV000679042 RCV001022813 RCV003998905 RCV005025396
NM_000551.4(VHL):c.578A>G (p.Asn193Ser)	SNV Germline	Chr3:10149901	Conflicting classifications of pathogenicity	Condition: not provided Von Hippel-Lindau syndrome Chuvash polycythemia Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome Chuvash polycythemia	Criteria Provided Conflicting Classifications	CA10584231	rs_879254225	6 SubmittersRCV000236061 RCV000537589 RCV001024530 RCV003998924 RCV004567785
NM_000551.4(VHL):c.394C>T (p.Gln132Ter)	SNV Germline	Chr3:10146567	Pathogenic	Condition: not provided Von Hippel-Lindau syndrome Chuvash polycythemia Von Hippel-Lindau syndrome	Criteria Provided Multiple Submitters No Conflicts	CA10606205	rs_5030813	4 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 Von Hippel-Lindau syndrome Chuvash polycythemia VHL-related disorder	Criteria Provided Conflicting Classifications	CA10614384	rs_772944298	6 SubmittersRCV000330011 RCV000679013 RCV002256218 RCV002057820 RCV003892005
NM_000551.4(VHL):c.167C>G (p.Ala56Gly)	SNV Germline	Chr3:10142014	Conflicting classifications of pathogenicity	Von Hippel-Lindau syndrome Von Hippel-Lindau syndrome Chuvash polycythemia Condition: not provided Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome Pheochromocytoma Chuvash polycythemia Nonpapillary renal cell carcinoma Chuvash polycythemia not specified	Criteria Provided Conflicting Classifications	CA039566	rs_752980085	10 SubmittersRCV000409162 RCV000530730 RCV000782251 RCV001012691 RCV002481266 RCV003470356 RCV005238961
NM_000551.4(VHL):c.28G>A (p.Glu10Lys)	SNV Germline	Chr3:10141875	Conflicting classifications of pathogenicity	Von Hippel-Lindau syndrome Von Hippel-Lindau syndrome Chuvash polycythemia Hereditary cancer-predisposing syndrome Condition: not provided Von Hippel-Lindau syndrome Pheochromocytoma Chuvash polycythemia Nonpapillary renal cell carcinoma Chuvash polycythemia	Criteria Provided Conflicting Classifications	CA16043991	rs_1057519261	9 SubmittersRCV000415643 RCV000476548 RCV001016912 RCV001584111 RCV002488864 RCV003463824
NM_000551.4(VHL):c.*7C>A	SNV Germline	Chr3:10149972	Conflicting classifications of pathogenicity	Condition: not provided VHL-related disorder Von Hippel-Lindau syndrome	Criteria Provided Conflicting Classifications	CA042089	rs_778005138	5 SubmittersRCV001703586 RCV004742417 RCV005600907
NM_000551.4(VHL):c.-15T>C	SNV Germline	Chr3:10141833	Conflicting classifications of pathogenicity	not specified Von Hippel-Lindau syndrome	Criteria Provided Conflicting Classifications	CA039536	rs_776768994	2 SubmittersRCV000426271 RCV006550015
NM_000551.4(VHL):c.1A>T (p.Met1Leu)	SNV Germline	Chr3:10141848	Conflicting classifications of pathogenicity	Von Hippel-Lindau syndrome Chuvash polycythemia Condition: not provided Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome Chuvash polycythemia Pheochromocytoma Nonpapillary renal cell carcinoma	Criteria Provided Conflicting Classifications	CA16611052	rs_1060503557	8 SubmittersRCV000458939 RCV000579235 RCV000663055 RCV002418424 RCV005027533
NM_000551.4(VHL):c.43G>A (p.Ala15Thr)	SNV Germline	Chr3:10141890	Conflicting classifications of pathogenicity	Von Hippel-Lindau syndrome Chuvash polycythemia Hereditary cancer-predisposing syndrome Chuvash polycythemia Von Hippel-Lindau syndrome	Criteria Provided Conflicting Classifications	CA16611060	rs_1060503568	4 SubmittersRCV000457623 RCV002329080 RCV003470500 RCV004001994
NM_000551.4(VHL):c.235C>G (p.Arg79Gly)	SNV Germline	Chr3:10142082	Conflicting classifications of pathogenicity	Von Hippel-Lindau syndrome Chuvash polycythemia Von Hippel-Lindau syndrome Chuvash polycythemia Pheochromocytoma Nonpapillary renal cell carcinoma Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA16611065	rs_200885420	4 SubmittersRCV000475786 RCV002475891 RCV004022892 RCV004722797
NM_000551.4(VHL):c.115G>C (p.Gly39Arg)	SNV Germline	Chr3:10141962	Conflicting classifications of pathogenicity	Von Hippel-Lindau syndrome Chuvash polycythemia Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA039367	rs_768650092	4 SubmittersRCV000463141 RCV001550254 RCV002356707
NM_000551.4(VHL):c.429C>T (p.Asp143=)	SNV Germline	Chr3:10146602	Conflicting classifications of pathogenicity	Von Hippel-Lindau syndrome Chuvash polycythemia Hereditary cancer-predisposing syndrome not specified Condition: not provided Von Hippel-Lindau syndrome Von Hippel-Lindau syndrome Chuvash polycythemia Pheochromocytoma Nonpapillary renal cell carcinoma	Criteria Provided Conflicting Classifications	CA040956	rs_773556807	7 SubmittersRCV000470382 RCV000564320 RCV000613763 RCV002056727 RCV004002229 RCV005027539
NM_000551.4(VHL):c.462A>G (p.Pro154=)	SNV Germline/somatic	Chr3:10146635	Conflicting classifications of pathogenicity	Von Hippel-Lindau syndrome Chuvash polycythemia Condition: not provided Lung sarcomatoid carcinoma	Criteria Provided Conflicting Classifications	CA16611069	rs_1060503562	3 SubmittersRCV000474447 RCV003317229 RCV003322605
NM_000551.4(VHL):c.620C>T (p.Ala207Val)	SNV Germline	Chr3:10149943	Conflicting classifications of pathogenicity	Von Hippel-Lindau syndrome Chuvash polycythemia Hereditary cancer-predisposing syndrome Condition: not provided Von Hippel-Lindau syndrome Von Hippel-Lindau syndrome Chuvash polycythemia Pheochromocytoma Nonpapillary renal cell carcinoma not specified	Criteria Provided Conflicting Classifications	CA16611076	rs_1060503549	6 SubmittersRCV000461637 RCV002365666 RCV003317228 RCV004802021 RCV005027532 RCV006458381
NM_000551.4(VHL):c.323G>A (p.Arg108His)	SNV Germline	Chr3:10142170	Conflicting classifications of pathogenicity	Von Hippel-Lindau syndrome Chuvash polycythemia Hereditary cancer-predisposing syndrome Condition: not provided Von Hippel-Lindau syndrome Chuvash polycythemia Pheochromocytoma Nonpapillary renal cell carcinoma Von Hippel-Lindau syndrome	Criteria Provided Conflicting Classifications	CA040275	rs_367594943	6 SubmittersRCV000458083 RCV001019385 RCV002269278 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 Von Hippel-Lindau syndrome Chuvash polycythemia Pheochromocytoma Nonpapillary renal cell carcinoma	Criteria Provided Conflicting Classifications	CA040676	rs_375401722	10 SubmittersRCV000462284 RCV000479517 RCV000708764 RCV002272247 RCV002489086
NM_000551.4(VHL):c.548C>T (p.Ser183Leu)	SNV Germline	Chr3:10149871	Conflicting classifications of pathogenicity	Von Hippel-Lindau syndrome Chuvash polycythemia Chuvash polycythemia Hereditary cancer-predisposing syndrome Condition: not provided Von Hippel-Lindau syndrome Von Hippel-Lindau syndrome Chuvash polycythemia Pheochromocytoma Nonpapillary renal cell carcinoma	Criteria Provided Conflicting Classifications	CA041537	rs_5030823	9 SubmittersRCV000476376 RCV001007624 RCV002349982 RCV003237874 RCV004001991 RCV005027537
NM_000551.4(VHL):c.579T>A (p.Asn193Lys)	SNV Germline	Chr3:10149902	Conflicting classifications of pathogenicity	Von Hippel-Lindau syndrome Chuvash polycythemia Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA16611097	rs_1060503558	2 SubmittersRCV000464021 RCV003168861
NM_000551.4(VHL):c.586A>G (p.Lys196Glu)	SNV Germline	Chr3:10149909	Conflicting classifications of pathogenicity	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	Von Hippel-Lindau syndrome Chuvash polycythemia Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA16611153	rs_1004620245	4 SubmittersRCV000459599 RCV002411515 RCV004802022 RCV005054197
NM_000551.4(VHL):c.21C>A (p.Asn7Lys)	SNV Germline	Chr3:10141868	Conflicting classifications of pathogenicity	Von Hippel-Lindau syndrome Chuvash polycythemia Hereditary cancer-predisposing syndrome Condition: not provided Von Hippel-Lindau syndrome Chuvash polycythemia Pheochromocytoma Nonpapillary renal cell carcinoma Von Hippel-Lindau syndrome	Criteria Provided Conflicting Classifications	CA16611156	rs_1060503561	6 SubmittersRCV000462197 RCV000574549 RCV001356021 RCV005027534 RCV006550143
NM_000551.4(VHL):c.26A>C (p.Asp9Ala)	SNV Germline	Chr3:10141873	Conflicting classifications of pathogenicity	Von Hippel-Lindau syndrome Chuvash polycythemia Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA16611161	rs_1060503560	2 SubmittersRCV000471735 RCV002436462
NM_000551.4(VHL):c.27C>A (p.Asp9Glu)	SNV Germline	Chr3:10141874	Conflicting classifications of pathogenicity	Von Hippel-Lindau syndrome Chuvash polycythemia Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA16611250	rs_1017141110	5 SubmittersRCV000456617 RCV002436463 RCV004001988 RCV003441887
NM_000551.4(VHL):c.488T>G (p.Leu163Arg)	SNV Germline	Chr3:10149811	Pathogenic	Von Hippel-Lindau syndrome Chuvash polycythemia Von Hippel-Lindau syndrome	Criteria Provided Multiple Submitters No Conflicts	CA16611277	rs_28940297	2 SubmittersRCV000474133 RCV005624214
NM_000551.4(VHL):c.613C>T (p.Arg205Cys)	SNV Germline	Chr3:10149936	Conflicting classifications of pathogenicity	Von Hippel-Lindau syndrome Chuvash polycythemia Condition: not provided Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome Von Hippel-Lindau syndrome Chuvash polycythemia Pheochromocytoma Nonpapillary renal cell carcinoma Chuvash polycythemia	Criteria Provided Conflicting Classifications	CA041940	rs_199926195	7 SubmittersRCV000471333 RCV000481600 RCV002356704 RCV004787738 RCV005027535 RCV004568086
NM_000551.4(VHL):c.221T>C (p.Val74Ala)	SNV Germline	Chr3:10142068	Conflicting classifications of pathogenicity	Condition: not provided Von Hippel-Lindau syndrome Chuvash polycythemia Von Hippel-Lindau syndrome Chuvash polycythemia Pheochromocytoma Nonpapillary renal cell carcinoma Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA16617786	rs_5030803	4 SubmittersRCV000484327 RCV000698497 RCV002475938 RCV005298500
NM_000551.4(VHL):c.224T>G (p.Ile75Ser)	SNV Germline	Chr3:10142071	Pathogenic/Likely pathogenic	Condition: not provided Von Hippel-Lindau syndrome Chuvash polycythemia Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA16617787	rs_1064794271	4 SubmittersRCV000479941 RCV000767237 RCV001201718 RCV004678722
NM_000551.4(VHL):c.393C>A (p.Asn131Lys)	SNV Germline	Chr3:10146566	Pathogenic/Likely pathogenic	Condition: not provided Chuvash polycythemia Von Hippel-Lindau syndrome Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA16617789	rs_1064794272	5 SubmittersRCV000482784 RCV002525827 RCV005056049 RCV005512750
NM_000551.4(VHL):c.551T>C (p.Leu184Pro)	SNV Germline	Chr3:10149874	Pathogenic/Likely pathogenic	Condition: not provided Von Hippel-Lindau syndrome Chuvash polycythemia Von Hippel-Lindau syndrome	Criteria Provided Multiple Submitters No Conflicts	CA16617792	rs_1064793878	4 SubmittersRCV000484822 RCV001258069 RCV005222956
NM_000551.4(VHL):c.599G>A (p.Arg200Gln)	SNV Germline	Chr3:10149922	Conflicting classifications of pathogenicity	Condition: not provided Von Hippel-Lindau syndrome Chuvash polycythemia Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome VHL-related disorder Chuvash polycythemia	Criteria Provided Conflicting Classifications	CA041791	rs_754016774	8 SubmittersRCV000479035 RCV000823835 RCV001024771 RCV001143974 RCV003401545 RCV003464021
NM_000551.4(VHL):c.614G>A (p.Arg205His)	SNV Germline	Chr3:10149937	Conflicting classifications of pathogenicity	Condition: not provided Chuvash polycythemia Von Hippel-Lindau syndrome Pheochromocytoma Nonpapillary renal cell carcinoma Chuvash polycythemia Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome	Criteria Provided Conflicting Classifications	CA041951	rs_777130107	8 SubmittersRCV000481472 RCV000764460 RCV000631259 RCV001024946 RCV004787783
NM_000551.4(VHL):c.208G>T (p.Glu70Ter)	SNV Germline	Chr3:10142055	Pathogenic	Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome Condition: not provided	Reviewed By Expert Panel	CA16602179	rs_5030802	4 SubmittersRCV000492695 RCV000767235 RCV000679020
NM_000551.4(VHL):c.250G>A (p.Val84Met)	SNV Germline	Chr3:10142097	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome Chuvash polycythemia Von Hippel-Lindau syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA351750580	rs_5030827	7 SubmittersRCV000492467 RCV000631269 RCV000767245 RCV004721392
NM_000551.4(VHL):c.286C>T (p.Gln96Ter)	SNV Germline	Chr3:10142133	Pathogenic	Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome Chuvash polycythemia	Criteria Provided Multiple Submitters No Conflicts	CA351750811	rs_1131690959	2 SubmittersRCV000492143 RCV006556089
NM_000551.4(VHL):c.341-3T>G	SNV Germline	Chr3:10146511	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome Von Hippel-Lindau syndrome Chuvash polycythemia	Criteria Provided Conflicting Classifications	CA16020704	rs_1131690965	3 SubmittersRCV000492211 RCV000767259 RCV006556090
NM_000551.4(VHL):c.353T>C (p.Leu118Pro)	SNV Germline	Chr3:10146526	Pathogenic	Hereditary cancer-predisposing syndrome Chuvash polycythemia Von Hippel-Lindau syndrome Condition: not provided Von Hippel-Lindau syndrome	Criteria Provided Multiple Submitters No Conflicts	CA70049399	rs_5030830	5 SubmittersRCV000492175 RCV000801496 RCV001702663 RCV004591439
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 Chuvash polycythemia Von Hippel-Lindau syndrome	Criteria Provided Conflicting Classifications	CA645369331	rs_1131690954	7 SubmittersRCV000492736 RCV000587888 RCV001809448 RCV003316644 RCV005222967
NM_000551.4(VHL):c.500G>C (p.Arg167Pro)	SNV Germline	Chr3:10149823	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome Von Hippel-Lindau syndrome Chuvash polycythemia	Criteria Provided Multiple Submitters No Conflicts	CA351756177	rs_5030821	3 SubmittersRCV000492510 RCV000767282 RCV006556088
NM_000551.4(VHL):c.506T>C (p.Leu169Pro)	SNV Germline	Chr3:10149829	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Chuvash polycythemia Von Hippel-Lindau syndrome See cases	Criteria Provided Conflicting Classifications	CA351756191	rs_1131690962	3 SubmittersRCV000492632 RCV003766762 RCV005899759
NM_000551.4(VHL):c.533T>C (p.Leu178Pro)	SNV Germline	Chr3:10149856	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Chuvash polycythemia Von Hippel-Lindau syndrome Von Hippel-Lindau syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA351756245	rs_5030822	6 SubmittersRCV000492520 RCV000631291 RCV000767287 RCV004701555
NM_000551.4(VHL):c.581T>G (p.Val194Gly)	SNV Germline	Chr3:10149904	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Chuvash polycythemia Von Hippel-Lindau syndrome Von Hippel-Lindau syndrome Chuvash polycythemia Nonpapillary renal cell carcinoma Pheochromocytoma Von Hippel-Lindau syndrome	Criteria Provided Conflicting Classifications	CA351756475	rs_1131690963	4 SubmittersRCV000492180 RCV000547627 RCV005056071 RCV005398712
NM_000551.4(VHL):c.583C>T (p.Gln195Ter)	SNV Germline	Chr3:10149906	Pathogenic	Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome	Reviewed By Expert Panel	CA70052558	rs_5030825	4 SubmittersRCV000492237 RCV001030024
NM_000551.4(VHL):c.53C>T (p.Ala18Val)	SNV Germline	Chr3:10141900	Conflicting classifications of pathogenicity	Chuvash polycythemia Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome Condition: not provided Von Hippel-Lindau syndrome	Criteria Provided Conflicting Classifications	CA351747282	rs_1553619302	4 SubmittersRCV000527264 RCV002350176 RCV003233701 RCV004003777
NM_000551.4(VHL):c.289C>A (p.Pro97Thr)	SNV Germline	Chr3:10142136	Conflicting classifications of pathogenicity	Von Hippel-Lindau syndrome Chuvash polycythemia Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome	Criteria Provided Conflicting Classifications	CA351750843	rs_863224688	3 SubmittersRCV000536081 RCV005298511 RCV006550311
NM_000551.4(VHL):c.22T>C (p.Trp8Arg)	SNV Germline	Chr3:10141869	Conflicting classifications of pathogenicity	Chuvash polycythemia Von Hippel-Lindau syndrome Condition: not provided Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA351747057	rs_1352171735	5 SubmittersRCV000559388 RCV003478129 RCV004787842 RCV005298510
NM_000551.4(VHL):c.31G>C (p.Ala11Pro)	SNV Germline	Chr3:10141878	Conflicting classifications of pathogenicity	Chuvash polycythemia Von Hippel-Lindau syndrome Nonpapillary renal cell carcinoma Pheochromocytoma Chuvash polycythemia Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome	Criteria Provided Conflicting Classifications	CA351747101	rs_1236604706	4 SubmittersRCV000554589 RCV000764457 RCV001019152 RCV004791523
NM_000551.4(VHL):c.262T>A (p.Trp88Arg)	SNV Germline	Chr3:10142109	Pathogenic	Von Hippel-Lindau syndrome Chuvash polycythemia Von Hippel-Lindau syndrome Condition: not provided Hereditary cancer-predisposing syndrome Chuvash polycythemia	Criteria Provided Multiple Submitters No Conflicts	CA351750671	rs_1553619431	7 SubmittersRCV000558602 RCV000587190 RCV000679026 RCV002431533 RCV003459186
NM_000551.4(VHL):c.377A>G (p.Asp126Gly)	SNV Germline	Chr3:10146550	Conflicting classifications of pathogenicity	Von Hippel-Lindau syndrome Chuvash polycythemia Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA351753841	rs_1354593943	3 SubmittersRCV000553383 RCV001021117 RCV001764530
NM_000551.4(VHL):c.385C>T (p.Leu129=)	SNV Germline	Chr3:10146558	Conflicting classifications of pathogenicity	Chuvash polycythemia Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome	Criteria Provided Conflicting Classifications	CA040752	rs_369018004	4 SubmittersRCV000546965 RCV002358438 RCV005620962
NM_000551.4(VHL):c.492G>T (p.Gln164His)	SNV Germline	Chr3:10149815	Pathogenic/Likely pathogenic	Von Hippel-Lindau syndrome Chuvash polycythemia Von Hippel-Lindau syndrome Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA351756157	rs_1352275281	4 SubmittersRCV000538803 RCV003330751 RCV002508221 RCV003302779
NM_000551.4(VHL):c.12G>A (p.Arg4=)	SNV Germline	Chr3:10141859	Conflicting classifications of pathogenicity	Chuvash polycythemia Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA432536137	rs_1553619274	5 SubmittersRCV000551863 RCV002384044 RCV005620959 RCV004592548
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	Chuvash polycythemia Von Hippel-Lindau syndrome Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA70042269	rs_912159589	6 SubmittersRCV000555182 RCV001150097 RCV002384045
NM_000551.4(VHL):c.105C>G (p.Ala35=)	SNV Germline	Chr3:10141952	Conflicting classifications of pathogenicity	Chuvash polycythemia Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA432536266	rs_1310829877	8 SubmittersRCV000542575 RCV001009767 RCV001150098 RCV001797098
NM_000551.4(VHL):c.312C>T (p.Gly104=)	SNV Germline	Chr3:10142159	Conflicting classifications of pathogenicity	Chuvash polycythemia Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome Condition: not provided VHL-related disorder Nonpapillary renal cell carcinoma Pheochromocytoma Chuvash polycythemia Von Hippel-Lindau syndrome Von Hippel-Lindau syndrome	Criteria Provided Conflicting Classifications	CA70046276	rs_946898891	7 SubmittersRCV000539418 RCV001018749 RCV001545850 RCV003392366 RCV005034085 RCV005620961
NM_000551.4(VHL):c.614G>T (p.Arg205Leu)	SNV Germline	Chr3:10149937	Conflicting classifications of pathogenicity	Von Hippel-Lindau syndrome Chuvash polycythemia Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome	Criteria Provided Conflicting Classifications	CA351756661	rs_777130107	3 SubmittersRCV000526063 RCV002358439 RCV004003778
NM_000551.4(VHL):c.385C>G (p.Leu129Val)	SNV Germline	Chr3:10146558	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Chuvash polycythemia Von Hippel-Lindau syndrome Condition: not provided Von Hippel-Lindau syndrome	Criteria Provided Conflicting Classifications	CA040734	rs_369018004	6 SubmittersRCV000568082 RCV000707457 RCV003441963 RCV004787963
NM_000551.4(VHL):c.302T>C (p.Leu101Pro)	SNV Germline	Chr3:10142149	Likely pathogenic	Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome Chuvash polycythemia	Criteria Provided Multiple Submitters No Conflicts	CA351751000	rs_1553619456	2 SubmittersRCV000574983 RCV001858152
NM_000551.4(VHL):c.487C>T (p.Leu163Phe)	SNV Germline	Chr3:10149810	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome Chuvash polycythemia Von Hippel-Lindau syndrome	Criteria Provided Multiple Submitters No Conflicts	CA351756135	rs_1553620318	3 SubmittersRCV000561095 RCV001224534 RCV005056204
NM_000551.4(VHL):c.460C>T (p.Pro154Ser)	SNV Germline	Chr3:10146633	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Chuvash polycythemia Von Hippel-Lindau syndrome Von Hippel-Lindau syndrome	Criteria Provided Multiple Submitters No Conflicts	CA351754405	rs_1553619993	4 SubmittersRCV000566330 RCV001046833 RCV001420952
NM_000551.4(VHL):c.508G>A (p.Val170Ile)	SNV Germline	Chr3:10149831	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Chuvash polycythemia Von Hippel-Lindau syndrome Chuvash polycythemia Pheochromocytoma Von Hippel-Lindau syndrome Nonpapillary renal cell carcinoma Condition: not provided Chuvash polycythemia Von Hippel-Lindau syndrome	Criteria Provided Conflicting Classifications	CA351756194	rs_1553620326	8 SubmittersRCV000569840 RCV001210329 RCV002483543 RCV003322793 RCV004568224 RCV006552434
NM_000551.4(VHL):c.278G>A (p.Gly93Asp)	SNV Germline	Chr3:10142125	Pathogenic/Likely pathogenic	Von Hippel-Lindau syndrome Von Hippel-Lindau syndrome Chuvash polycythemia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA351750781	rs_1553619440	5 SubmittersRCV000586256 RCV001853983 RCV005000363
NM_000551.4(VHL):c.313A>C (p.Thr105Pro)	SNV Germline/somatic	Chr3:10142160	Pathogenic	Von Hippel-Lindau syndrome	Criteria Provided Single Submitter	CA351751116	rs_1553619461	2 SubmittersRCV000589007
NM_000551.4(VHL):c.395A>C (p.Gln132Pro)	SNV Germline	Chr3:10146568	Pathogenic/Likely pathogenic	Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome Chuvash polycythemia	Criteria Provided Multiple Submitters No Conflicts	CA351753958	rs_1347416980	3 SubmittersRCV000589183 RCV002377215 RCV005223019
NM_000551.4(VHL):c.355T>C (p.Phe119Leu)	SNV Germline	Chr3:10146528	Pathogenic	Von Hippel-Lindau syndrome Von Hippel-Lindau syndrome Chuvash polycythemia Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA351753707	rs_1553619948	3 SubmittersRCV000588483 RCV000631289 RCV002456285
NM_000551.4(VHL):c.407T>G (p.Phe136Cys)	SNV Germline	Chr3:10146580	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome Chuvash polycythemia Von Hippel-Lindau syndrome	Criteria Provided Conflicting Classifications	CA70049495	rs_5030833	4 SubmittersRCV000589290 RCV000767268 RCV006556306
NM_000551.4(VHL):c.238A>C (p.Ser80Arg)	SNV Germline	Chr3:10142085	Pathogenic	Von Hippel-Lindau syndrome Chuvash polycythemia Von Hippel-Lindau syndrome	Criteria Provided Multiple Submitters No Conflicts	CA16621913	rs_786202787	2 SubmittersRCV000590356 RCV006556305
NM_000551.4(VHL):c.388G>T (p.Val130Phe)	SNV Germline	Chr3:10146561	Pathogenic	Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA351753913	rs_104893830	3 SubmittersRCV000588434 RCV004024678
NM_000551.4(VHL):c.262T>C (p.Trp88Arg)	SNV Germline	Chr3:10142109	Pathogenic	Von Hippel-Lindau syndrome Von Hippel-Lindau syndrome Chuvash polycythemia	Criteria Provided Multiple Submitters No Conflicts	CA351750667	rs_1553619431	3 SubmittersRCV000589476 RCV000631292
NM_000551.4(VHL):c.392A>G (p.Asn131Ser)	SNV Germline	Chr3:10146565	Pathogenic/Likely pathogenic	Von Hippel-Lindau syndrome Condition: not provided Von Hippel-Lindau syndrome Chuvash polycythemia	Criteria Provided Multiple Submitters No Conflicts	CA351753941	rs_1553619963	3 SubmittersRCV000590750 RCV002225684 RCV002530908
NM_000551.4(VHL):c.484T>C (p.Cys162Arg)	SNV Germline	Chr3:10149807	Pathogenic	Von Hippel-Lindau syndrome Chuvash polycythemia Von Hippel-Lindau syndrome	Criteria Provided Multiple Submitters No Conflicts	CA351756117	rs_1553620313	3 SubmittersRCV000587033 RCV001060967
NM_000551.4(VHL):c.345C>A (p.His115Gln)	SNV Germline	Chr3:10146518	Pathogenic/Likely pathogenic	Von Hippel-Lindau syndrome Von Hippel-Lindau syndrome Chuvash polycythemia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA351753631	rs_864622646	3 SubmittersRCV000588324 RCV001044333 RCV005231141
NM_000551.4(VHL):c.382C>T (p.Leu128Phe)	SNV Germline	Chr3:10146555	Conflicting classifications of pathogenicity	Von Hippel-Lindau syndrome Chuvash polycythemia Von Hippel-Lindau syndrome	Criteria Provided Conflicting Classifications	CA351753886	rs_1553619956	2 SubmittersRCV001232610 RCV005240275
NM_000551.4(VHL):c.407T>C (p.Phe136Ser)	SNV Germline	Chr3:10146580	Pathogenic/Likely pathogenic	Von Hippel-Lindau syndrome Condition: not provided Von Hippel-Lindau syndrome Chuvash polycythemia	Criteria Provided Multiple Submitters No Conflicts	CA040847	rs_5030833	5 SubmittersRCV000587621 RCV000679038 RCV003767339
NM_000551.4(VHL):c.-44G>T	SNV Germline	Chr3:10141804	Conflicting classifications of pathogenicity	not specified Von Hippel-Lindau syndrome Chuvash polycythemia	Criteria Provided Conflicting Classifications	CA70042011	rs_929301467	2 SubmittersRCV000615943 RCV005223047
NM_000551.4(VHL):c.-48C>G	SNV Germline	Chr3:10141800	Conflicting classifications of pathogenicity	not specified Von Hippel-Lindau syndrome Chuvash polycythemia	Criteria Provided Conflicting Classifications	CA658796230	rs_973379327	2 SubmittersRCV000608452 RCV006556378
NM_000551.4(VHL):c.-47C>T	SNV Germline	Chr3:10141801	Conflicting classifications of pathogenicity	not specified Von Hippel-Lindau syndrome Chuvash polycythemia	Criteria Provided Conflicting Classifications	CA041298	rs_745439844	3 SubmittersRCV000613129 RCV003767559
NM_000551.4(VHL):c.-10C>T	SNV Germline	Chr3:10141838	Conflicting classifications of pathogenicity	not specified Von Hippel-Lindau syndrome Chuvash polycythemia Nonpapillary renal cell carcinoma Pheochromocytoma Von Hippel-Lindau syndrome	Criteria Provided Conflicting Classifications	CA541213514	rs_1192379474	3 SubmittersRCV000609650 RCV002498924 RCV004802290
NM_000551.4(VHL):c.216C>T (p.Ser72=)	SNV Germline	Chr3:10142063	Conflicting classifications of pathogenicity	Chuvash polycythemia Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome	Criteria Provided Conflicting Classifications	CA039823	rs_774557051	5 SubmittersRCV000631303 RCV002431859 RCV003497874
NM_000551.4(VHL):c.341-8C>G	SNV Germline	Chr3:10146506	Conflicting classifications of pathogenicity	Chuvash polycythemia Von Hippel-Lindau syndrome Von Hippel-Lindau syndrome	Criteria Provided Conflicting Classifications	CA658795339	rs_1272767361	2 SubmittersRCV000631265 RCV006552542
NM_000551.4(VHL):c.500G>T (p.Arg167Leu)	SNV Germline	Chr3:10149823	Pathogenic	Chuvash polycythemia Von Hippel-Lindau syndrome	Criteria Provided Single Submitter	CA351756178	rs_5030821	1 SubmittersRCV000631284
NM_000551.4(VHL):c.245G>T (p.Arg82Leu)	SNV Germline	Chr3:10142092	Pathogenic/Likely pathogenic	Chuvash polycythemia Von Hippel-Lindau syndrome Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA351750555	rs_794726890	4 SubmittersRCV000631271 RCV001553666 RCV002448934
NM_000551.4(VHL):c.298A>G (p.Thr100Ala)	SNV Germline	Chr3:10142145	Conflicting classifications of pathogenicity	Chuvash polycythemia Von Hippel-Lindau syndrome Condition: not provided Hereditary cancer-predisposing syndrome Chuvash polycythemia Von Hippel-Lindau syndrome Nonpapillary renal cell carcinoma Pheochromocytoma Von Hippel-Lindau syndrome	Criteria Provided Conflicting Classifications	CA040192	rs_745901803	9 SubmittersRCV000631270 RCV000997987 RCV002255483 RCV002477380 RCV004788047
NM_000551.4(VHL):c.460C>G (p.Pro154Ala)	SNV Germline	Chr3:10146633	Likely pathogenic	Chuvash polycythemia Von Hippel-Lindau syndrome	Criteria Provided Single Submitter	CA351754403	rs_1553619993	1 SubmittersRCV000631264
NM_000551.4(VHL):c.463+1G>A	SNV Germline	Chr3:10146637	Pathogenic	Chuvash polycythemia Von Hippel-Lindau syndrome Condition: not provided Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome	Reviewed By Expert Panel	CA16621909	rs_869025657	5 SubmittersRCV000631276 RCV000714168 RCV002334057 RCV004691263
NM_000551.4(VHL):c.291C>G (p.Pro97=)	SNV Germline	Chr3:10142138	Conflicting classifications of pathogenicity	Chuvash polycythemia Von Hippel-Lindau syndrome Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA70046209	rs_1805159	4 SubmittersRCV000631295 RCV001143971 RCV002438649
NM_000551.4(VHL):c.575C>T (p.Pro192Leu)	SNV Germline	Chr3:10149898	Conflicting classifications of pathogenicity	Chuvash polycythemia Von Hippel-Lindau syndrome Von Hippel-Lindau syndrome Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA351756444	rs_902694906	6 SubmittersRCV000631274 RCV000767296 RCV000679044 RCV002343200
NM_000551.4(VHL):c.193T>C (p.Ser65Pro)	SNV Germline	Chr3:10142040	Pathogenic	Von Hippel-Lindau syndrome	Criteria Provided Single Submitter	CA351748798	rs_869025616	2 SubmittersRCV000660351
NM_000551.4(VHL):c.1A>G (p.Met1Val)	SNV Germline	Chr3:10141848	Conflicting classifications of pathogenicity	Von Hippel-Lindau syndrome Chuvash polycythemia Von Hippel-Lindau syndrome Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA351747010	rs_1060503557	5 SubmittersRCV000662755 RCV001230391 RCV001784228 RCV002422448
NC_000003.12:g.10141751T>G	SNV Germline	Chr3:10141751	Conflicting classifications of pathogenicity	Condition: not provided Chuvash polycythemia Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome not specified	Criteria Provided Conflicting Classifications	CA70041931	rs_34271731	5 SubmittersRCV000679016 RCV002060844 RCV002256463 RCV001816688
NM_000551.4(VHL):c.-73C>T	SNV Germline	Chr3:10141775	Conflicting classifications of pathogenicity	Pheochromocytoma Von Hippel-Lindau syndrome Chuvash polycythemia Nonpapillary renal cell carcinoma Von Hippel-Lindau syndrome not specified	Criteria Provided Conflicting Classifications	CA70041962	rs_1034934219	5 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 Von Hippel-Lindau syndrome	Criteria Provided Conflicting Classifications	CA658822548	rs_1559428033	6 SubmittersRCV000679033 RCV001442130 RCV002458187 RCV005621014
NM_000551.4(VHL):c.3G>C (p.Met1Ile)	SNV Germline	Chr3:10141850	Conflicting classifications of pathogenicity	Chuvash polycythemia Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome	Criteria Provided Conflicting Classifications	CA70042122	rs_578091032	3 SubmittersRCV000707210 RCV002369974 RCV004792421
NM_000551.4(VHL):c.217C>G (p.Gln73Glu)	SNV Germline	Chr3:10142064	Conflicting classifications of pathogenicity	Chuvash polycythemia Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA70042515	rs_869025619	2 SubmittersRCV000686913 RCV002424590
NM_000551.4(VHL):c.264G>C (p.Trp88Cys)	SNV Germline	Chr3:10142111	Pathogenic	Chuvash polycythemia Von Hippel-Lindau syndrome	Criteria Provided Single Submitter	CA351750678	rs_869025622	1 SubmittersRCV000704506
NM_000551.4(VHL):c.164A>G (p.Glu55Gly)	SNV Germline	Chr3:10142011	Conflicting classifications of pathogenicity	Chuvash polycythemia Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA351748514	rs_1328776664	2 SubmittersRCV000696740 RCV005772018
NM_000551.4(VHL):c.340G>A (p.Gly114Ser)	SNV Germline	Chr3:10142187	Pathogenic/Likely pathogenic	Chuvash polycythemia Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome	Criteria Provided Multiple Submitters No Conflicts	CA351751372	rs_869025636	3 SubmittersRCV000707336 RCV003353002 RCV006554580
NM_000551.4(VHL):c.341-5G>T	SNV Germline	Chr3:10146509	Conflicting classifications of pathogenicity	Chuvash polycythemia Von Hippel-Lindau syndrome Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA891843323	rs_372340900	3 SubmittersRCV000688058 RCV005621015 RCV005772015
NM_000551.4(VHL):c.370A>G (p.Thr124Ala)	SNV Germline	Chr3:10146543	Conflicting classifications of pathogenicity	Von Hippel-Lindau syndrome Chuvash polycythemia Condition: not provided	Criteria Provided Conflicting Classifications	CA351753796	rs_1559428091	2 SubmittersRCV000707189 RCV001759423
NM_000551.4(VHL):c.472C>G (p.Leu158Val)	SNV Germline	Chr3:10149795	Pathogenic	Chuvash polycythemia Von Hippel-Lindau syndrome Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA351756068	rs_1559429613	3 SubmittersRCV000688156 RCV001575396 RCV002334267
NM_000551.4(VHL):c.331A>T (p.Ser111Cys)	SNV Germline	Chr3:10142178	Pathogenic	Chuvash polycythemia Von Hippel-Lindau syndrome	Criteria Provided Single Submitter	CA351751322	rs_1559426203	1 SubmittersRCV000685144
NM_000551.4(VHL):c.463+2T>C	SNV Germline	Chr3:10146638	Pathogenic	Chuvash polycythemia Von Hippel-Lindau syndrome Condition: not provided Clear cell carcinoma of kidney	Criteria Provided Single Submitter	CA16621936	rs_5030814	3 SubmittersRCV000690034 RCV000786844 RCV005901651
NM_000551.4(VHL):c.88G>A (p.Gly30Arg)	SNV Germline	Chr3:10141935	Conflicting classifications of pathogenicity	Chuvash polycythemia Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome Condition: not provided Von Hippel-Lindau syndrome	Criteria Provided Conflicting Classifications	CA70042258	rs_913104799	5 SubmittersRCV000685906 RCV001018482 RCV002298738 RCV004802352
NM_000551.4(VHL):c.280G>T (p.Glu94Ter)	SNV Germline	Chr3:10142127	Pathogenic	Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome Chuvash polycythemia Von Hippel-Lindau syndrome	Criteria Provided Multiple Submitters No Conflicts	CA70046202	rs_5030829	3 SubmittersRCV000767251 RCV000708631 RCV001222557
NM_000551.4(VHL):c.481C>G (p.Arg161Gly)	SNV Germline	Chr3:10149804	Pathogenic	Condition: not provided Chuvash polycythemia Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA16621941	rs_5030818	3 SubmittersRCV000756901 RCV001855883 RCV002332535
NM_000551.4(VHL):c.492G>C (p.Gln164His)	SNV Germline	Chr3:10149815	Pathogenic/Likely pathogenic	Condition: not provided Hereditary cancer-predisposing syndrome Chuvash polycythemia Von Hippel-Lindau syndrome Von Hippel-Lindau syndrome	Criteria Provided Multiple Submitters No Conflicts	CA351756154	rs_1352275281	6 SubmittersRCV000756902 RCV001023281 RCV001382402 RCV005870839
NM_000551.4(VHL):c.188T>A (p.Leu63Gln)	SNV Germline	Chr3:10142035	Conflicting classifications of pathogenicity	Von Hippel-Lindau syndrome Chuvash polycythemia Von Hippel-Lindau syndrome	Criteria Provided Conflicting Classifications	CA351748753	rs_104893827	2 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	CA351748894	rs_869025617	3 SubmittersRCV000767234 RCV001046095 RCV002422648
NM_000551.4(VHL):c.221T>A (p.Val74Asp)	SNV Germline	Chr3:10142068	Conflicting classifications of pathogenicity	Von Hippel-Lindau syndrome Chuvash polycythemia Von Hippel-Lindau syndrome	Criteria Provided Conflicting Classifications	CA351749169	rs_5030803	2 SubmittersRCV000767236 RCV001855961
NM_000551.4(VHL):c.227T>A (p.Phe76Tyr)	SNV Germline	Chr3:10142074	Conflicting classifications of pathogenicity	Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome Chuvash polycythemia Von Hippel-Lindau syndrome	Criteria Provided Conflicting Classifications	CA351749231	rs_730882033	3 SubmittersRCV000767239 RCV004027205 RCV005213385
NM_000551.4(VHL):c.232A>C (p.Asn78His)	SNV Germline	Chr3:10142079	Pathogenic	Von Hippel-Lindau syndrome	Criteria Provided Single Submitter	CA351749283	rs_869025621	2 SubmittersRCV000767240
NM_000551.4(VHL):c.232A>G (p.Asn78Asp)	SNV Germline	Chr3:10142079	Pathogenic/Likely pathogenic	Von Hippel-Lindau syndrome Chuvash polycythemia Von Hippel-Lindau syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA351749284	rs_869025621	4 SubmittersRCV000767241 RCV001869052 RCV002260666
NM_000551.4(VHL):c.239G>T (p.Ser80Ile)	SNV Germline	Chr3:10142086	Pathogenic/Likely pathogenic	Von Hippel-Lindau syndrome Chuvash polycythemia Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA16621914	rs_5030805	4 SubmittersRCV000767244 RCV001220559 RCV005512813
NM_000551.4(VHL):c.287A>C (p.Gln96Pro)	SNV Germline	Chr3:10142134	Conflicting classifications of pathogenicity	Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA351750823	rs_1559426089	2 SubmittersRCV000767252 RCV002440591
NM_000551.4(VHL):c.294C>G (p.Tyr98Ter)	SNV Germline	Chr3:10142141	Pathogenic	Von Hippel-Lindau syndrome Condition: not provided Chuvash polycythemia Von Hippel-Lindau syndrome	Criteria Provided Multiple Submitters No Conflicts	CA16621910	rs_1559426115	3 SubmittersRCV000767254 RCV004723159 RCV006556630
NM_000551.4(VHL):c.350G>A (p.Trp117Ter)	SNV Germline	Chr3:10146523	Pathogenic	Von Hippel-Lindau syndrome	Criteria Provided Single Submitter	CA351753668	rs_1559428056	1 SubmittersRCV000767261
NM_000551.4(VHL):c.357C>G (p.Phe119Leu)	SNV Germline	Chr3:10146530	Pathogenic	Von Hippel-Lindau syndrome Chuvash polycythemia Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA351753726	rs_1559428077	5 SubmittersRCV000767262 RCV000821822 RCV002458373 RCV005638530
NM_000551.4(VHL):c.386T>C (p.Leu129Pro)	SNV Germline	Chr3:10146559	Conflicting classifications of pathogenicity	Von Hippel-Lindau syndrome Chuvash polycythemia Von Hippel-Lindau syndrome	Criteria Provided Conflicting Classifications	CA351753904	rs_1559428119	2 SubmittersRCV000767264 RCV001855962
NM_000551.4(VHL):c.429C>G (p.Asp143Glu)	SNV Germline	Chr3:10146602	Conflicting classifications of pathogenicity	Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome Chuvash polycythemia Von Hippel-Lindau syndrome	Criteria Provided Conflicting Classifications	CA351754191	rs_773556807	3 SubmittersRCV000767271 RCV005286204 RCV006556631
NM_000551.4(VHL):c.433C>T (p.Gln145Ter)	SNV Germline	Chr3:10146606	Pathogenic	Von Hippel-Lindau syndrome Chuvash polycythemia Von Hippel-Lindau syndrome	Criteria Provided Multiple Submitters No Conflicts	CA351754219	rs_749704215	2 SubmittersRCV000767273 RCV006556632
NM_000551.4(VHL):c.490C>G (p.Gln164Glu)	SNV Germline	Chr3:10149813	Conflicting classifications of pathogenicity	Von Hippel-Lindau syndrome Chuvash polycythemia Von Hippel-Lindau syndrome	Criteria Provided Conflicting Classifications	CA351756145	rs_5030819	2 SubmittersRCV000767279 RCV005213386
NM_000551.4(VHL):c.497T>A (p.Val166Asp)	SNV Germline	Chr3:10149820	Pathogenic	Von Hippel-Lindau syndrome	Criteria Provided Single Submitter	CA351756176	rs_397516445	1 SubmittersRCV000767280
NM_000551.4(VHL):c.509T>A (p.Val170Asp)	SNV Germline	Chr3:10149832	Pathogenic/Likely pathogenic	Von Hippel-Lindau syndrome Condition: not provided Hereditary cancer-predisposing syndrome Chuvash polycythemia Von Hippel-Lindau syndrome	Criteria Provided Multiple Submitters No Conflicts	CA351756195	rs_864321642	6 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	CA351756239	rs_1559429717	1 SubmittersRCV000767285
NM_000551.4(VHL):c.533T>A (p.Leu178Gln)	SNV Germline	Chr3:10149856	Pathogenic	Von Hippel-Lindau syndrome	Criteria Provided Single Submitter	CA70052370	rs_5030822	1 SubmittersRCV000767288
NM_000551.4(VHL):c.533T>G (p.Leu178Arg)	SNV Germline	Chr3:10149856	Pathogenic	Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA351756248	rs_5030822	2 SubmittersRCV000767289 RCV003279047
NM_000551.4(VHL):c.563T>A (p.Leu188Gln)	SNV Germline	Chr3:10149886	Likely pathogenic	Von Hippel-Lindau syndrome	Criteria Provided Single Submitter	CA351756398	rs_1559429824	1 SubmittersRCV000767293
NM_000551.4(VHL):c.563T>C (p.Leu188Pro)	SNV Germline	Chr3:10149886	Pathogenic/Likely pathogenic	Von Hippel-Lindau syndrome Chuvash polycythemia Von Hippel-Lindau syndrome	Criteria Provided Multiple Submitters No Conflicts	CA351756399	rs_1559429824	3 SubmittersRCV000767294 RCV002536595
NM_000551.4(VHL):c.642A>G (p.Ter214Trp)	SNV Germline	Chr3:10149965	Likely pathogenic	Von Hippel-Lindau syndrome Chuvash polycythemia Von Hippel-Lindau syndrome	Criteria Provided Multiple Submitters No Conflicts	CA351756723	rs_1559430011	3 SubmittersRCV000767298 RCV006556633
NM_000551.4(VHL):c.642A>T (p.Ter214Cys)	SNV Germline	Chr3:10149965	Likely pathogenic	Von Hippel-Lindau syndrome	Criteria Provided Single Submitter	CA351756724	rs_1559430011	1 SubmittersRCV000767299
NM_000551.4(VHL):c.331A>G (p.Ser111Gly)	SNV Germline	Chr3:10142178	Pathogenic	Von Hippel-Lindau syndrome Chuvash polycythemia Von Hippel-Lindau syndrome	Criteria Provided Multiple Submitters No Conflicts	CA351751321	rs_1559426203	2 SubmittersRCV000780788 RCV001039507
NM_000551.4(VHL):c.336C>G (p.Tyr112Ter)	SNV Germline	Chr3:10142183	Pathogenic	Von Hippel-Lindau syndrome Chuvash polycythemia Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA351751359	rs_751232153	4 SubmittersRCV000780787 RCV001068352 RCV003307415 RCV005641801
NM_000551.4(VHL):c.70G>A (p.Gly24Ser)	SNV Germline	Chr3:10141917	Conflicting classifications of pathogenicity	Chuvash polycythemia Von Hippel-Lindau syndrome Ovarian cancer	Criteria Provided Conflicting Classifications	CA351747411	rs_1438223626	2 SubmittersRCV000803089 RCV003153844
NM_000551.4(VHL):c.134C>T (p.Pro45Leu)	SNV Germline	Chr3:10141981	Conflicting classifications of pathogenicity	Chuvash polycythemia Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome Condition: not provided Von Hippel-Lindau syndrome	Criteria Provided Conflicting Classifications	CA70042375	rs_199583685	4 SubmittersRCV000803524 RCV002381760 RCV003238229 RCV004001665
NM_000551.4(VHL):c.265C>T (p.Leu89Phe)	SNV Germline	Chr3:10142112	Conflicting classifications of pathogenicity	Chuvash polycythemia Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA351750683	rs_1575922124	6 SubmittersRCV000807105 RCV003166260 RCV004001694 RCV005623371 RCV005432435
NM_000551.4(VHL):c.344A>G (p.His115Arg)	SNV Germline	Chr3:10146517	Pathogenic	Chuvash polycythemia Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA70049376	rs_5030812	2 SubmittersRCV000822511 RCV003169035
NM_000551.4(VHL):c.461C>T (p.Pro154Leu)	SNV Germline	Chr3:10146634	Pathogenic	Chuvash polycythemia Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA351754410	rs_1399097617	2 SubmittersRCV000804483 RCV002336632
NM_000551.4(VHL):c.572A>G (p.His191Arg)	SNV Germline	Chr3:10149895	Conflicting classifications of pathogenicity	Chuvash polycythemia Von Hippel-Lindau syndrome Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA041703	rs_370050374	6 SubmittersRCV000815290 RCV001292677 RCV002345864 RCV005416425
NM_000551.4(VHL):c.340+3A>G	SNV Germline	Chr3:10142190	Conflicting classifications of pathogenicity	Chuvash polycythemia Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA915941838	rs_1575922597	3 SubmittersRCV000794955 RCV001020206 RCV001592972
NM_000551.4(VHL):c.252G>C (p.Val84=)	SNV Germline	Chr3:10142099	Conflicting classifications of pathogenicity	Chuvash polycythemia Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA432420469	rs_1436342215	5 SubmittersRCV000923179 RCV003169318 RCV004803302 RCV006261164
NM_000551.4(VHL):c.6C>T (p.Pro2=)	SNV Germline	Chr3:10141853	Conflicting classifications of pathogenicity	Condition: not provided Von Hippel-Lindau syndrome Chuvash polycythemia Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome	Criteria Provided Conflicting Classifications	CA70042136	rs_1014417508	4 SubmittersRCV000937631 RCV001395391 RCV002363426 RCV005621044
NM_000551.4(VHL):c.640T>A (p.Ter214Arg)	SNV Germline	Chr3:10149963	Conflicting classifications of pathogenicity	Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome Chuvash polycythemia Von Hippel-Lindau syndrome	Criteria Provided Conflicting Classifications	CA351756718	rs_1575932781	3 SubmittersRCV000987111 RCV001025239 RCV002550599
NM_000551.4(VHL):c.340+770T>C	SNV Germline	Chr3:10142957	Conflicting classifications of pathogenicity	Chuvash polycythemia Chuvash polycythemia Von Hippel-Lindau syndrome Congenital Erythrocytosis Condition: not provided Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome	Criteria Provided Conflicting Classifications	CA896160296	rs_1346312258	10 SubmittersRCV001007626 RCV001238805 RCV003325984 RCV004588452 RCV005298669 RCV005359743
NM_000551.4(VHL):c.245G>A (p.Arg82His)	SNV Germline	Chr3:10142092	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Chuvash polycythemia Von Hippel-Lindau syndrome	Criteria Provided Conflicting Classifications	CA351750549	rs_794726890	2 SubmittersRCV001015609 RCV001219698
NM_000551.4(VHL):c.524A>T (p.Tyr175Phe)	SNV Germline	Chr3:10149847	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Chuvash polycythemia Von Hippel-Lindau syndrome Condition: not provided Von Hippel-Lindau syndrome	Criteria Provided Conflicting Classifications	CA351756230	rs_193922613	4 SubmittersRCV001023797 RCV001359453 RCV001536627 RCV006545786
NM_000551.4(VHL):c.575C>G (p.Pro192Arg)	SNV Germline	Chr3:10149898	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Chuvash polycythemia Von Hippel-Lindau syndrome	Criteria Provided Conflicting Classifications	CA70052552	rs_902694906	2 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 Chuvash polycythemia Von Hippel-Lindau syndrome	Criteria Provided Multiple Submitters No Conflicts	CA351753591	rs_1575927648	4 SubmittersRCV001020234 RCV003447574 RCV003467657 RCV006556934
NM_000551.4(VHL):c.508G>C (p.Val170Leu)	SNV Germline	Chr3:10149831	Likely pathogenic	Von Hippel-Lindau syndrome	No Assertion Criteria Provided	CA351756192	rs_1553620326	1 SubmittersRCV001028059
NM_000551.4(VHL):c.17A>C (p.Glu6Ala)	SNV Germline	Chr3:10141864	Conflicting classifications of pathogenicity	Chuvash polycythemia Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA351747033	rs_1696114029	2 SubmittersRCV001071455 RCV004950253
NM_000551.4(VHL):c.21C>G (p.Asn7Lys)	SNV Germline	Chr3:10141868	Conflicting classifications of pathogenicity	Von Hippel-Lindau syndrome Chuvash polycythemia Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA351747053	rs_1060503561	2 SubmittersRCV001053669 RCV004678922
NM_000551.4(VHL):c.27C>G (p.Asp9Glu)	SNV Germline	Chr3:10141874	Conflicting classifications of pathogenicity	Von Hippel-Lindau syndrome Chuvash polycythemia Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA351747082	rs_1017141110	2 SubmittersRCV001050407 RCV005762158
NM_000551.4(VHL):c.59T>C (p.Val20Ala)	SNV Germline	Chr3:10141906	Conflicting classifications of pathogenicity	Von Hippel-Lindau syndrome Chuvash polycythemia Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA70042225	rs_929332564	2 SubmittersRCV001047363 RCV002355024
NM_000551.4(VHL):c.151G>C (p.Glu51Gln)	SNV Germline	Chr3:10141998	Conflicting classifications of pathogenicity	Von Hippel-Lindau syndrome Chuvash polycythemia Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome Chuvash polycythemia Pheochromocytoma Nonpapillary renal cell carcinoma	Criteria Provided Conflicting Classifications	CA351748282	rs_1480825246	3 SubmittersRCV001042972 RCV004031308 RCV005029601
NM_000551.4(VHL):c.160A>T (p.Met54Leu)	SNV Germline	Chr3:10142007	Conflicting classifications of pathogenicity	Von Hippel-Lindau syndrome Chuvash polycythemia Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA351748458	rs_1696125033	2 SubmittersRCV001046725 RCV003307840
NM_000551.4(VHL):c.208G>C (p.Glu70Gln)	SNV Germline	Chr3:10142055	Likely pathogenic	Von Hippel-Lindau syndrome Chuvash polycythemia	Criteria Provided Single Submitter	CA351748955	rs_5030802	1 SubmittersRCV001051596
NM_000551.4(VHL):c.253C>G (p.Leu85Val)	SNV Germline	Chr3:10142100	Conflicting classifications of pathogenicity	Von Hippel-Lindau syndrome Chuvash polycythemia Hereditary cancer-predisposing syndrome Chuvash polycythemia Von Hippel-Lindau syndrome	Criteria Provided Conflicting Classifications	CA351750604	rs_1422271977	4 SubmittersRCV001043701 RCV002429599 RCV004570144 RCV006545814
NM_000551.4(VHL):c.304C>T (p.Pro102Ser)	SNV Germline	Chr3:10142151	Conflicting classifications of pathogenicity	Von Hippel-Lindau syndrome Chuvash polycythemia Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA040238	rs_532018719	3 SubmittersRCV001063174 RCV004998628 RCV005298694
NM_000551.4(VHL):c.330C>G (p.His110Gln)	SNV Germline	Chr3:10142177	Conflicting classifications of pathogenicity	Chuvash polycythemia Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA351751317	rs_1696140667	2 SubmittersRCV001071787 RCV005512904
NM_000551.4(VHL):c.349T>G (p.Trp117Gly)	SNV Germline	Chr3:10146522	Pathogenic	Chuvash polycythemia Von Hippel-Lindau syndrome	Criteria Provided Single Submitter	CA351753662	rs_1696261074	1 SubmittersRCV001069048
NM_000551.4(VHL):c.451A>G (p.Ile151Val)	SNV Germline	Chr3:10146624	Conflicting classifications of pathogenicity	Von Hippel-Lindau syndrome Chuvash polycythemia Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA351754350	rs_876659313	3 SubmittersRCV001063276 RCV002290579 RCV003160518
NM_000551.4(VHL):c.596A>G (p.Glu199Gly)	SNV Germline	Chr3:10149919	Conflicting classifications of pathogenicity	Von Hippel-Lindau syndrome Chuvash polycythemia Condition: not provided Chuvash polycythemia Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA351756560	rs_760690217	6 SubmittersRCV001052780 RCV004597955 RCV004570197 RCV004000055 RCV006287334
NM_000551.4(VHL):c.599G>T (p.Arg200Leu)	SNV Germline	Chr3:10149922	Likely pathogenic	Chuvash polycythemia Von Hippel-Lindau syndrome	Criteria Provided Single Submitter	CA041814	rs_754016774	1 SubmittersRCV001042529
NM_000551.4(VHL):c.109G>T (p.Glu37Ter)	SNV Germline	Chr3:10141956	Conflicting classifications of pathogenicity	Condition: not provided Chuvash polycythemia Von Hippel-Lindau syndrome	Criteria Provided Conflicting Classifications	CA351747760	rs_1338996432	2 SubmittersRCV001092964 RCV002554860
NM_000551.4(VHL):c.*70C>T	SNV Germline	Chr3:10150035	Conflicting classifications of pathogenicity	Von Hippel-Lindau syndrome Von Hippel-Lindau syndrome Chuvash polycythemia Condition: not provided Hereditary cancer-predisposing syndrome not specified VHL-related disorder	Criteria Provided Conflicting Classifications	CA70052740	rs_552290225	8 SubmittersRCV001145867 RCV001512864 RCV001530804 RCV002259085 RCV005419008 RCV004743300
NM_000551.4(VHL):c.362A>T (p.Asp121Val)	SNV Germline	Chr3:10146535	Likely pathogenic	Von Hippel-Lindau syndrome Chuvash polycythemia	Criteria Provided Single Submitter	CA351753756	rs_5030832	1 SubmittersRCV001221169
NM_000551.4(VHL):c.38T>C (p.Val13Ala)	SNV Germline	Chr3:10141885	Conflicting classifications of pathogenicity	Chuvash polycythemia Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome	Criteria Provided Conflicting Classifications	CA351747150	rs_1553619289	3 SubmittersRCV001210678 RCV002356899 RCV006545965
NM_000551.4(VHL):c.149C>G (p.Ala50Gly)	SNV Germline	Chr3:10141996	Conflicting classifications of pathogenicity	Von Hippel-Lindau syndrome Chuvash polycythemia Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA351748259	rs_766576246	2 SubmittersRCV001204260 RCV004678990
NM_000551.4(VHL):c.264G>A (p.Trp88Ter)	SNV Germline	Chr3:10142111	Pathogenic	Chuvash polycythemia Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome Tuberous sclerosis 2 Von Hippel-Lindau syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA351750677	rs_869025622	5 SubmittersRCV001205532 RCV003163557 RCV005863372 RCV005863371 RCV006450904
NM_000551.4(VHL):c.421A>C (p.Asn141His)	SNV Germline	Chr3:10146594	Conflicting classifications of pathogenicity	Chuvash polycythemia Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA351754131	rs_1696265107	2 SubmittersRCV001206608 RCV006287352
NM_000551.4(VHL):c.545G>C (p.Arg182Thr)	SNV Germline	Chr3:10149868	Conflicting classifications of pathogenicity	Chuvash polycythemia Von Hippel-Lindau syndrome Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA351756315	rs_749774529	3 SubmittersRCV001205464 RCV004803562 RCV004950324
NM_000551.4(VHL):c.463+5T>G	SNV Germline	Chr3:10146641	Conflicting classifications of pathogenicity	Von Hippel-Lindau syndrome Chuvash polycythemia Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome	Criteria Provided Conflicting Classifications	CA70049644	rs_1003364563	4 SubmittersRCV001218453 RCV002339573 RCV004803575
NM_000551.4(VHL):c.130G>C (p.Gly44Arg)	SNV Germline	Chr3:10141977	Conflicting classifications of pathogenicity	Von Hippel-Lindau syndrome Chuvash polycythemia Von Hippel-Lindau syndrome Nonpapillary renal cell carcinoma Chuvash polycythemia Pheochromocytoma Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA351748058	rs_1575921446	3 SubmittersRCV001233308 RCV002484277 RCV005512962
NM_000551.4(VHL):c.478G>C (p.Glu160Gln)	SNV Germline	Chr3:10149801	Conflicting classifications of pathogenicity	Von Hippel-Lindau syndrome Chuvash polycythemia Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA351756093	rs_1696354965	3 SubmittersRCV001231369 RCV002484264 RCV004951379
NM_000551.4(VHL):c.93G>C (p.Glu31Asp)	SNV Germline	Chr3:10141940	Conflicting classifications of pathogenicity	Von Hippel-Lindau syndrome Chuvash polycythemia Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome Nonpapillary renal cell carcinoma Chuvash polycythemia Pheochromocytoma Von Hippel-Lindau syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA351747611	rs_1438911242	6 SubmittersRCV001243676 RCV004034759 RCV005036526 RCV004803600 RCV006258490
NM_000551.4(VHL):c.563T>G (p.Leu188Arg)	SNV Germline	Chr3:10149886	Likely pathogenic	Chuvash polycythemia Von Hippel-Lindau syndrome	Criteria Provided Single Submitter	CA351756400	rs_1559429824	1 SubmittersRCV001246640
NM_000551.4(VHL):c.131G>A (p.Gly44Asp)	SNV Germline	Chr3:10141978	Conflicting classifications of pathogenicity	Chuvash polycythemia Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA70042374	rs_1056226386	3 SubmittersRCV001300923 RCV002258187
NM_000551.4(VHL):c.184G>C (p.Val62Leu)	SNV Germline	Chr3:10142031	Conflicting classifications of pathogenicity	Von Hippel-Lindau syndrome Chuvash polycythemia Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA351748731	rs_747861291	2 SubmittersRCV001295524 RCV002411940
NM_000551.4(VHL):c.295C>A (p.Pro99Thr)	SNV Germline	Chr3:10142142	Conflicting classifications of pathogenicity	Chuvash polycythemia Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA351750899	rs_549807529	2 SubmittersRCV001294550 RCV002437001
NM_000551.4(VHL):c.464-9C>T	SNV Germline	Chr3:10149778	Conflicting classifications of pathogenicity	Chuvash polycythemia Von Hippel-Lindau syndrome Von Hippel-Lindau syndrome	Criteria Provided Conflicting Classifications	CA541213526	rs_1238907068	2 SubmittersRCV001294956 RCV004803607
NM_000551.4(VHL):c.190C>A (p.Arg64Ser)	SNV Germline	Chr3:10142037	Likely pathogenic	Von Hippel-Lindau syndrome Chuvash polycythemia	Criteria Provided Single Submitter	CA351748769	rs_1487408934	1 SubmittersRCV001322991
NM_000551.4(VHL):c.340+714G>A	SNV Germline	Chr3:10142901	Conflicting classifications of pathogenicity	Von Hippel-Lindau syndrome Chuvash polycythemia Pheochromocytoma	Criteria Provided Conflicting Classifications	CA896160287	rs_1054796088	2 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	CA351753771	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	CA351754317	rs_1696266503	1 SubmittersRCV001317824
NM_000551.4(VHL):c.463G>C (p.Val155Leu)	SNV Germline	Chr3:10146636	Conflicting classifications of pathogenicity	Von Hippel-Lindau syndrome Chuvash polycythemia Condition: not provided	Criteria Provided Conflicting Classifications	CA351754415	rs_869025659	2 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 Chuvash polycythemia Pheochromocytoma Von Hippel-Lindau syndrome	Criteria Provided Conflicting Classifications	CA351747563	rs_913104799	5 SubmittersRCV001351817 RCV002377495 RCV002486456 RCV004005245
NM_000551.4(VHL):c.145G>C (p.Gly49Arg)	SNV Germline	Chr3:10141992	Conflicting classifications of pathogenicity	Chuvash polycythemia Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA351748216	rs_1696124265	2 SubmittersRCV001346919 RCV005513024
NM_000551.4(VHL):c.327C>G (p.Ile109Met)	SNV Germline	Chr3:10142174	Conflicting classifications of pathogenicity	Chuvash polycythemia Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome	Criteria Provided Conflicting Classifications	CA351751282	rs_863224371	3 SubmittersRCV001338507 RCV002322272 RCV004005152
NM_000551.4(VHL):c.340+574A>T	SNV Germline	Chr3:10142761	Conflicting classifications of pathogenicity	Von Hippel-Lindau syndrome Chuvash polycythemia Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA70046634	rs_982745672	3 SubmittersRCV001344145 RCV004809566 RCV005513020
NM_000551.4(VHL):c.340+832T>C	SNV Germline	Chr3:10143019	Conflicting classifications of pathogenicity	Chuvash polycythemia Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA1345067657	rs_1696165411	2 SubmittersRCV001348216 RCV003169706
NM_000551.4(VHL):c.593T>A (p.Leu198Gln)	SNV Germline	Chr3:10149916	Likely pathogenic	Von Hippel-Lindau syndrome Chuvash polycythemia Von Hippel-Lindau syndrome	Criteria Provided Multiple Submitters No Conflicts	CA351756548	rs_869025667	2 SubmittersRCV001377066 RCV005419106
NM_000551.4(VHL):c.239G>A (p.Ser80Asn)	SNV Germline	Chr3:10142086	Pathogenic/Likely pathogenic	Chuvash polycythemia Von Hippel-Lindau syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA70046108	rs_5030805	2 SubmittersRCV001382228 RCV004590365
NM_000551.4(VHL):c.400G>T (p.Glu134Ter)	SNV Germline	Chr3:10146573	Pathogenic	Von Hippel-Lindau syndrome Chuvash polycythemia Von Hippel-Lindau syndrome	Criteria Provided Multiple Submitters No Conflicts	CA351753995	rs_2125128363	2 SubmittersRCV001381653 RCV005601773
NM_000551.4(VHL):c.354C>T (p.Leu118=)	SNV Germline	Chr3:10146527	Conflicting classifications of pathogenicity	Chuvash polycythemia Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome	Criteria Provided Conflicting Classifications	CA70049406	rs_1051892430	3 SubmittersRCV001411728 RCV003160644 RCV005621101
NM_000551.4(VHL):c.357C>T (p.Phe119=)	SNV Germline	Chr3:10146530	Conflicting classifications of pathogenicity	Chuvash polycythemia Von Hippel-Lindau syndrome Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA432421796	rs_1559428077	3 SubmittersRCV001430668 RCV004793489 RCV005772190
NM_000551.4(VHL):c.383T>C (p.Leu128Pro)	SNV Germline	Chr3:10146556	Pathogenic/Likely pathogenic	Condition: not provided Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome Von Hippel-Lindau syndrome Chuvash polycythemia	Criteria Provided Multiple Submitters No Conflicts	CA351753889	rs_2125128327	4 SubmittersRCV001577269 RCV002359188 RCV003316842 RCV003771754
NM_000551.4(VHL):c.-45C>A	SNV Germline	Chr3:10141803	Conflicting classifications of pathogenicity	Condition: not provided Chuvash polycythemia Von Hippel-Lindau syndrome VHL-related disorder	Criteria Provided Conflicting Classifications	CA70041986	rs_372483939	3 SubmittersRCV001715376 RCV003771863 RCV003968507
NM_000551.4(VHL):c.244C>G (p.Arg82Gly)	SNV Germline	Chr3:10142091	Pathogenic	Von Hippel-Lindau syndrome Von Hippel-Lindau syndrome Chuvash polycythemia	Criteria Provided Single Submitter	CA351750544	rs_1214305423	2 SubmittersRCV001724795 RCV003771867
NM_000551.4(VHL):c.111G>C (p.Glu37Asp)	SNV Germline	Chr3:10141958	Conflicting classifications of pathogenicity	Condition: not provided Von Hippel-Lindau syndrome Chuvash polycythemia Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA351747799	rs_1398333169	3 SubmittersRCV001758273 RCV001861065 RCV005762340
NM_000551.4(VHL):c.242C>A (p.Pro81Gln)	SNV Germline	Chr3:10142089	Conflicting classifications of pathogenicity	Condition: not provided Von Hippel-Lindau syndrome Chuvash polycythemia Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA351750529	rs_193922608	3 SubmittersRCV001771461 RCV001868619 RCV004040282
NM_000551.4(VHL):c.602T>C (p.Leu201Pro)	SNV Germline	Chr3:10149925	Likely pathogenic	Von Hippel-Lindau syndrome	No Assertion Criteria Provided	CA351756590	rs_2125130793	1 SubmittersRCV001786527
NM_000551.4(VHL):c.131G>C (p.Gly44Ala)	SNV Germline	Chr3:10141978	Conflicting classifications of pathogenicity	Von Hippel-Lindau syndrome Chuvash polycythemia Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA351748061	rs_1056226386	2 SubmittersRCV002021926 RCV004946976
NM_000551.4(VHL):c.143T>A (p.Leu48Gln)	SNV Germline	Chr3:10141990	Conflicting classifications of pathogenicity	Chuvash polycythemia Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome	Criteria Provided Conflicting Classifications	CA351748198	rs_199959170	3 SubmittersRCV001864672 RCV005762385 RCV006550594
NM_000551.4(VHL):c.193T>A (p.Ser65Thr)	SNV Germline	Chr3:10142040	Pathogenic	Von Hippel-Lindau syndrome Chuvash polycythemia	Criteria Provided Single Submitter	CA351748794	rs_869025616	1 SubmittersRCV001929631
NM_000551.4(VHL):c.463+3A>C	SNV Germline	Chr3:10146639	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Nonpapillary renal cell carcinoma Von Hippel-Lindau syndrome Chuvash polycythemia	Criteria Provided Conflicting Classifications	CA645525016	rs_1131690954	3 SubmittersRCV002337111 RCV005925535 RCV001999191
NM_000551.4(VHL):c.391A>T (p.Asn131Tyr)	SNV Germline	Chr3:10146564	Likely pathogenic	Von Hippel-Lindau syndrome Chuvash polycythemia Von Hippel-Lindau syndrome	Criteria Provided Multiple Submitters No Conflicts	CA351753934	rs_2125128340	2 SubmittersRCV006554641 RCV002034406
NM_000551.4(VHL):c.148G>C (p.Ala50Pro)	SNV Germline	Chr3:10141995	Conflicting classifications of pathogenicity	Chuvash polycythemia Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA351748241	rs_1696124466	3 SubmittersRCV002050011 RCV005513108 RCV006258663
NM_000551.4(VHL):c.463+1G>T	SNV Germline	Chr3:10146637	Pathogenic	Chuvash polycythemia Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome Clear cell carcinoma of kidney	Criteria Provided Multiple Submitters No Conflicts	CA16621935	rs_869025657	4 SubmittersRCV001972698 RCV002331532 RCV004044390 RCV005925360
NM_000551.4(VHL):c.340+5G>A	SNV Germline	Chr3:10142192	Conflicting classifications of pathogenicity	Chuvash polycythemia Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA1345066584	rs_61758376	2 SubmittersRCV001979981 RCV004946927
NM_000551.4(VHL):c.37G>C (p.Val13Leu)	SNV Germline	Chr3:10141884	Conflicting classifications of pathogenicity	Von Hippel-Lindau syndrome Chuvash polycythemia Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA351747145	rs_919338576	3 SubmittersRCV001927607 RCV004804288 RCV005298922
NM_000551.4(VHL):c.545G>T (p.Arg182Met)	SNV Germline	Chr3:10149868	Conflicting classifications of pathogenicity	Chuvash polycythemia Von Hippel-Lindau syndrome Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA351756317	rs_749774529	3 SubmittersRCV001894758 RCV004009230 RCV005772248
NM_000551.4(VHL):c.574C>A (p.Pro192Thr)	SNV Germline	Chr3:10149897	Conflicting classifications of pathogenicity	Chuvash polycythemia Von Hippel-Lindau syndrome Chuvash polycythemia	Criteria Provided Conflicting Classifications	CA351756433	rs_28940300	2 SubmittersRCV001988653 RCV003464363
NM_000551.4(VHL):c.158A>G (p.Glu53Gly)	SNV Germline	Chr3:10142005	Conflicting classifications of pathogenicity	Chuvash polycythemia Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA351748429	rs_2125124854	2 SubmittersRCV001886409 RCV005298913
NM_000551.4(VHL):c.475A>T (p.Lys159Ter)	SNV Germline	Chr3:10149798	Pathogenic	Chuvash polycythemia Von Hippel-Lindau syndrome Von Hippel-Lindau syndrome VHL-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA351756080	rs_1575932011	3 SubmittersRCV002007406 RCV003329425 RCV004728985
NM_000551.4(VHL):c.340+630C>T	SNV Germline	Chr3:10142817	Conflicting classifications of pathogenicity	Chuvash polycythemia Von Hippel-Lindau syndrome not specified	Criteria Provided Conflicting Classifications	CA2573136101	rs_2125125896	2 SubmittersRCV001995759 RCV004596504
NM_000551.4(VHL):c.553T>A (p.Tyr185Asn)	SNV Germline	Chr3:10149876	Conflicting classifications of pathogenicity	Von Hippel-Lindau syndrome Chuvash polycythemia Chuvash polycythemia Von Hippel-Lindau syndrome Von Hippel-Lindau syndrome Chuvash polycythemia Nonpapillary renal cell carcinoma Pheochromocytoma	Criteria Provided Conflicting Classifications	CA041587	rs_768390987	4 SubmittersRCV001905552 RCV003470996 RCV004785360 RCV005038435
NM_000551.4(VHL):c.67T>G (p.Tyr23Asp)	SNV Germline	Chr3:10141914	Conflicting classifications of pathogenicity	Chuvash polycythemia Von Hippel-Lindau syndrome Chuvash polycythemia Pheochromocytoma Nonpapillary renal cell carcinoma Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA351747388	rs_1696118253	3 SubmittersRCV002001124 RCV005032064 RCV004946996
NM_000551.4(VHL):c.341-11T>A	SNV Germline	Chr3:10146503	Pathogenic	Chuvash polycythemia Von Hippel-Lindau syndrome	Criteria Provided Single Submitter	CA645524868	rs_2125128187	1 SubmittersRCV001956145
NM_000551.4(VHL):c.148G>A (p.Ala50Thr)	SNV Germline	Chr3:10141995	Conflicting classifications of pathogenicity	Chuvash polycythemia Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA351748226	rs_1696124466	2 SubmittersRCV001961707 RCV004946953
NM_000551.4(VHL):c.513G>C (p.Lys171Asn)	SNV Germline	Chr3:10149836	Conflicting classifications of pathogenicity	Chuvash polycythemia Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome Chuvash polycythemia Von Hippel-Lindau syndrome	Criteria Provided Conflicting Classifications	CA351756203	rs_1365445365	4 SubmittersRCV001896326 RCV003303309 RCV004571553 RCV004804285
NM_000551.4(VHL):c.131G>T (p.Gly44Val)	SNV Germline	Chr3:10141978	Conflicting classifications of pathogenicity	Chuvash polycythemia Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA351748065	rs_1056226386	2 SubmittersRCV001882271 RCV004041460
NM_000551.4(VHL):c.308C>T (p.Pro103Leu)	SNV Germline	Chr3:10142155	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Chuvash polycythemia Von Hippel-Lindau syndrome	Criteria Provided Conflicting Classifications	CA351751083	rs_2125125299	2 SubmittersRCV002324453 RCV001988554
NM_000551.4(VHL):c.589G>A (p.Asp197Asn)	SNV Germline	Chr3:10149912	Likely pathogenic	Von Hippel-Lindau syndrome	Criteria Provided Single Submitter	CA351756524	rs_1064794951	1 SubmittersRCV002251697
NM_000551.4(VHL):c.-1A>G	SNV Germline	Chr3:10141847	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome	Criteria Provided Conflicting Classifications	CA1044994608	rs_1165233721	3 SubmittersRCV002292084 RCV002416559 RCV004005595
NM_000551.4(VHL):c.388G>A (p.Val130Ile)	SNV Germline	Chr3:10146561	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Chuvash polycythemia Von Hippel-Lindau syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA351753916	rs_104893830	3 SubmittersRCV002357396 RCV003102470 RCV005232954
NM_000551.4(VHL):c.406T>G (p.Phe136Val)	SNV Germline	Chr3:10146579	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Chuvash polycythemia Von Hippel-Lindau syndrome	Criteria Provided Multiple Submitters No Conflicts	CA351754039	rs_1696264108	2 SubmittersRCV002321463 RCV003775806
NM_000551.4(VHL):c.335A>C (p.Tyr112Ser)	SNV Germline	Chr3:10142182	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome Chuvash polycythemia	Criteria Provided Multiple Submitters No Conflicts	CA351751356	rs_869025633	2 SubmittersRCV002321045 RCV005213662
NM_000551.4(VHL):c.463+4C>G	SNV Germline	Chr3:10146640	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome	Criteria Provided Conflicting Classifications	CA1139768329	rs_879253989	2 SubmittersRCV002330407 RCV005601897
NM_000551.4(VHL):c.487C>A (p.Leu163Ile)	SNV Germline	Chr3:10149810	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Chuvash polycythemia Von Hippel-Lindau syndrome Von Hippel-Lindau syndrome	Criteria Provided Conflicting Classifications	CA351756131	rs_1553620318	3 SubmittersRCV002340459 RCV003775986 RCV006554654
NM_000551.4(VHL):c.584A>G (p.Gln195Arg)	SNV Germline	Chr3:10149907	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Chuvash polycythemia Von Hippel-Lindau syndrome	Criteria Provided Conflicting Classifications	CA351756496	rs_2470171278	2 SubmittersRCV002353321 RCV003103239
NM_000551.4(VHL):c.201C>G (p.Asn67Lys)	SNV Germline	Chr3:10142048	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome Chuvash polycythemia Von Hippel-Lindau syndrome	Criteria Provided Conflicting Classifications	CA039757	rs_769658318	3 SubmittersRCV002417451 RCV003101012 RCV006553305
NM_000551.4(VHL):c.-1A>T	SNV Germline	Chr3:10141847	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome	Criteria Provided Conflicting Classifications	CA541213516	rs_1165233721	2 SubmittersRCV002417119 RCV005621196
NM_000551.4(VHL):c.302T>G (p.Leu101Arg)	SNV Germline	Chr3:10142149	Likely pathogenic	Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome	Criteria Provided Multiple Submitters No Conflicts	CA351751004	rs_1553619456	2 SubmittersRCV002435999 RCV003455513
NM_000551.4(VHL):c.176C>T (p.Pro59Leu)	SNV Germline	Chr3:10142023	Conflicting classifications of pathogenicity	Chuvash polycythemia Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA351748662	rs_1696126408	2 SubmittersRCV003092741 RCV004948980
NM_000551.4(VHL):c.633G>A (p.Met211Ile)	SNV Germline	Chr3:10149956	Conflicting classifications of pathogenicity	Chuvash polycythemia Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome	Criteria Provided Conflicting Classifications	CA351756701	rs_2125130877	3 SubmittersRCV002619566 RCV006292321 RCV006546379
NM_000551.4(VHL):c.361G>A (p.Asp121Asn)	SNV Germline	Chr3:10146534	Pathogenic	Chuvash polycythemia Von Hippel-Lindau syndrome	Criteria Provided Single Submitter	CA351753750	rs_2125128261	1 SubmittersRCV002651639
NM_000551.4(VHL):c.464T>G (p.Val155Gly)	SNV Germline	Chr3:10149787	Likely pathogenic	Chuvash polycythemia Von Hippel-Lindau syndrome	Criteria Provided Single Submitter	CA16621938	rs_2125130449	1 SubmittersRCV002651640
NM_000551.4(VHL):c.259G>A (p.Val87Ile)	SNV Germline	Chr3:10142106	Conflicting classifications of pathogenicity	Chuvash polycythemia Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA351750641	rs_2125125165	2 SubmittersRCV003112096 RCV003162152
NM_000551.4(VHL):c.231C>A (p.Cys77Ter)	SNV Germline	Chr3:10142078	Pathogenic	Chuvash polycythemia Von Hippel-Lindau syndrome	Criteria Provided Single Submitter	CA351749279	rs_2125125069	1 SubmittersRCV002863461
NM_000551.4(VHL):c.341-2A>T	SNV Germline	Chr3:10146512	Pathogenic	Chuvash polycythemia Von Hippel-Lindau syndrome Von Hippel-Lindau syndrome Clear cell carcinoma of kidney	Criteria Provided Multiple Submitters No Conflicts	CA351753586	rs_869025637	3 SubmittersRCV002877178 RCV003455591 RCV005928672
NM_000551.4(VHL):c.161T>G (p.Met54Arg)	SNV Germline	Chr3:10142008	Likely pathogenic	Chuvash polycythemia Von Hippel-Lindau syndrome	Criteria Provided Single Submitter	CA351748469	rs_1575921544	1 SubmittersRCV002908478
NM_000551.4(VHL):c.349T>C (p.Trp117Arg)	SNV Germline	Chr3:10146522	Pathogenic	Von Hippel-Lindau syndrome Chuvash polycythemia	Criteria Provided Single Submitter	CA351753660	rs_1696261074	1 SubmittersRCV003017971
NM_000551.4(VHL):c.503G>A (p.Ser168Asn)	SNV Germline	Chr3:10149826	Conflicting classifications of pathogenicity	Chuvash polycythemia Von Hippel-Lindau syndrome Chuvash polycythemia Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA351756182	rs_2125130551	4 SubmittersRCV003017988 RCV003465888 RCV005288874 RCV003317638
NM_000551.4(VHL):c.188T>G (p.Leu63Arg)	SNV Germline	Chr3:10142035	Likely pathogenic	Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome Chuvash polycythemia Von Hippel-Lindau syndrome	Criteria Provided Multiple Submitters No Conflicts	CA351748749	rs_104893827	3 SubmittersRCV003300745 RCV005216033 RCV006460575
NM_000551.4(VHL):c.*9G>C	SNV Germline	Chr3:10149974	Conflicting classifications of pathogenicity	Condition: not provided Von Hippel-Lindau syndrome	Criteria Provided Conflicting Classifications	CA042135	rs_764358108	2 SubmittersRCV003332732 RCV005621245
NM_000551.4(VHL):c.292T>A (p.Tyr98Asn)	SNV Germline	Chr3:10142139	Pathogenic	Von Hippel-Lindau syndrome	Criteria Provided Single Submitter	CA351750883	rs_5030809	1 SubmittersRCV003388486
NM_000551.4(VHL):c.331A>C (p.Ser111Arg)	SNV Unknown	Chr3:10142178	Pathogenic	Von Hippel-Lindau syndrome	Criteria Provided Single Submitter	CA351751320	rs_1559426203	1 SubmittersRCV003450556
NM_000551.4(VHL):c.341-1G>T	SNV Unknown	Chr3:10146513	Pathogenic	Von Hippel-Lindau syndrome Clear cell carcinoma of kidney	Criteria Provided Single Submitter	CA351753597	rs_1575927648	2 SubmittersRCV003452624 RCV005927708
NM_000551.4(VHL):c.202T>C (p.Ser68Pro)	SNV Germline	Chr3:10142049	Pathogenic	Chuvash polycythemia Von Hippel-Lindau syndrome	Criteria Provided Single Submitter	CA16621912	rs_2470158062	1 SubmittersRCV003780996
NM_000551.4(VHL):c.350G>C (p.Trp117Ser)	SNV Germline	Chr3:10146523	Likely pathogenic	Chuvash polycythemia Von Hippel-Lindau syndrome	Criteria Provided Single Submitter	CA351753671	rs_1559428056	1 SubmittersRCV003780998
NM_000551.4(VHL):c.464-2A>C	SNV Germline	Chr3:10149785	Pathogenic	Chuvash polycythemia Von Hippel-Lindau syndrome	Criteria Provided Single Submitter	CA351756024	rs_5030816	1 SubmittersRCV003781000
NM_000551.4(VHL):c.555C>A (p.Tyr185Ter)	SNV Germline	Chr3:10149878	Pathogenic	Chuvash polycythemia Von Hippel-Lindau syndrome	Criteria Provided Single Submitter	CA351756378	rs_864622109	1 SubmittersRCV003781002
NM_000551.4(VHL):c.341G>T (p.Gly114Val)	SNV Germline	Chr3:10146514	Likely pathogenic	Chuvash polycythemia Von Hippel-Lindau syndrome	Criteria Provided Single Submitter	CA351753604	rs_1559428039	1 SubmittersRCV003781367
NM_000551.4(VHL):c.319C>A (p.Arg107Ser)	SNV Germline	Chr3:10142166	Pathogenic	Chuvash polycythemia Von Hippel-Lindau syndrome	Criteria Provided Single Submitter	CA351751190	rs_397516440	1 SubmittersRCV003805279
NM_000551.4(VHL):c.340+2T>G	SNV Germline	Chr3:10142189	Pathogenic	Chuvash polycythemia Von Hippel-Lindau syndrome	Criteria Provided Single Submitter	CA351751384	rs_1407805768	1 SubmittersRCV003800681
NM_000551.4(VHL):c.162G>A (p.Met54Ile)	SNV Germline	Chr3:10142009	Likely pathogenic	Chuvash polycythemia Von Hippel-Lindau syndrome	Criteria Provided Single Submitter	CA351748478	rs_2125124863	1 SubmittersRCV003801970
NM_000551.4(VHL):c.220G>T (p.Val74Phe)	SNV Germline	Chr3:10142067	Likely pathogenic	Von Hippel-Lindau syndrome Chuvash polycythemia	Criteria Provided Single Submitter	CA351749164	rs_2125125032	1 SubmittersRCV003813709
NM_000551.4(VHL):c.118C>A (p.Pro40Thr)	SNV Germline	Chr3:10141965	Conflicting classifications of pathogenicity	Chuvash polycythemia Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA039380	rs_776399733	2 SubmittersRCV003809633 RCV006292474
NM_000551.4(VHL):c.640T>C (p.Ter214Arg)	SNV Germline	Chr3:10149963	Likely pathogenic	Von Hippel-Lindau syndrome Chuvash polycythemia	Criteria Provided Single Submitter	CA351756719	rs_1575932781	1 SubmittersRCV003815631
NM_000551.4(VHL):c.460C>A (p.Pro154Thr)	SNV Germline	Chr3:10146633	Likely pathogenic	Chuvash polycythemia Von Hippel-Lindau syndrome	Criteria Provided Single Submitter	CA351754401	rs_1553619993	1 SubmittersRCV003807570
NM_000551.4(VHL):c.-13G>C	SNV Germline	Chr3:10141835	Conflicting classifications of pathogenicity	Von Hippel-Lindau syndrome	Criteria Provided Conflicting Classifications	CA541213511	rs_1057522448	2 SubmittersRCV004012598
NM_000551.4(VHL):c.240T>A (p.Ser80Arg)	SNV Germline	Chr3:10142087	Likely pathogenic	Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA351750519	rs_1553619424	3 SubmittersRCV004440400 RCV004440401
NM_000551.4(VHL):c.11G>A (p.Arg4Lys)	SNV Germline	Chr3:10141858	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome	Criteria Provided Conflicting Classifications	CA351747022	rs_886057703	2 SubmittersRCV004520895 RCV006551186
NM_000551.4(VHL):c.1A>C (p.Met1Leu)	SNV Germline	Chr3:10141848	Conflicting classifications of pathogenicity	Von Hippel-Lindau syndrome Chuvash polycythemia Von Hippel-Lindau syndrome	Criteria Provided Conflicting Classifications			2 SubmittersRCV004790184 RCV006565344
NM_000551.4(VHL):c.-10C>G	SNV Germline	Chr3:10141838	Conflicting classifications of pathogenicity	Von Hippel-Lindau syndrome	Criteria Provided Conflicting Classifications			3 SubmittersRCV004802869
NM_000551.4(VHL):c.597G>C (p.Glu199Asp)	SNV Germline	Chr3:10149920	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome Chuvash polycythemia	Criteria Provided Conflicting Classifications			2 SubmittersRCV004950916 RCV005218380
NM_000551.4(VHL):c.310G>C (p.Gly104Arg)	SNV Germline	Chr3:10142157	Conflicting classifications of pathogenicity	Von Hippel-Lindau syndrome Nonpapillary renal cell carcinoma Pheochromocytoma Chuvash polycythemia Von Hippel-Lindau syndrome Chuvash polycythemia	Criteria Provided Conflicting Classifications			2 SubmittersRCV005031012 RCV006564274
NM_000551.4(VHL):c.262T>G (p.Trp88Gly)	SNV Germline	Chr3:10142109	Conflicting classifications of pathogenicity	Condition: not provided Von Hippel-Lindau syndrome Chuvash polycythemia	Criteria Provided Conflicting Classifications			2 SubmittersRCV005052748 RCV006564329
NM_000551.4(VHL):c.341-2A>C	SNV Germline	Chr3:10146512	Pathogenic	Chuvash polycythemia Von Hippel-Lindau syndrome	Criteria Provided Single Submitter			1 SubmittersRCV005228506
NM_000551.4(VHL):c.523T>A (p.Tyr175Asn)	SNV Germline	Chr3:10149846	Likely pathogenic	Chuvash polycythemia Von Hippel-Lindau syndrome	Criteria Provided Single Submitter			1 SubmittersRCV005228510
NM_000551.4(VHL):c.295C>T (p.Pro99Ser)	SNV Germline	Chr3:10142142	Conflicting classifications of pathogenicity	Von Hippel-Lindau syndrome Chuvash polycythemia Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications			2 SubmittersRCV005212007 RCV005303531
NM_000551.4(VHL):c.368G>T (p.Gly123Val)	SNV Germline	Chr3:10146541	Conflicting classifications of pathogenicity	Von Hippel-Lindau syndrome Chuvash polycythemia Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications			2 SubmittersRCV005212008 RCV005774765
NM_000551.4(VHL):c.485G>C (p.Cys162Ser)	SNV Germline	Chr3:10149808	Likely pathogenic	Chuvash polycythemia Von Hippel-Lindau syndrome	Criteria Provided Single Submitter			1 SubmittersRCV005212009
NM_000551.4(VHL):c.599G>C (p.Arg200Pro)	SNV Germline	Chr3:10149922	Likely pathogenic	Chuvash polycythemia Von Hippel-Lindau syndrome	Criteria Provided Single Submitter			1 SubmittersRCV005212011
NM_000551.4(VHL):c.*70C>A	SNV Germline	Chr3:10150035	Likely pathogenic	Von Hippel-Lindau syndrome	Criteria Provided Single Submitter			1 SubmittersRCV005358555
NM_000551.4(VHL):c.58G>A (p.Val20Ile)	SNV Germline	Chr3:10141905	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome Chuvash polycythemia	Criteria Provided Conflicting Classifications			2 SubmittersRCV005296816 RCV006567306
NM_000551.4(VHL):c.637G>T (p.Asp213Tyr)	SNV Germline	Chr3:10149960	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Chuvash polycythemia Von Hippel-Lindau syndrome	Criteria Provided Conflicting Classifications			2 SubmittersRCV005519194 RCV006568192
NM_000551.4(VHL):c.398C>A (p.Thr133Asn)	SNV Germline	Chr3:10146571	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Chuvash polycythemia Von Hippel-Lindau syndrome	Criteria Provided Conflicting Classifications			2 SubmittersRCV005519205 RCV006568193
NM_000551.4(VHL):c.341-3T>C	SNV Germline	Chr3:10146511	Conflicting classifications of pathogenicity	Von Hippel-Lindau syndrome Chuvash polycythemia Chuvash polycythemia Von Hippel-Lindau syndrome	Criteria Provided Conflicting Classifications			3 SubmittersRCV005621528 RCV005860495 RCV006568373
NM_000551.4(VHL):c.359G>A (p.Arg120Lys)	SNV Germline	Chr3:10146532	Likely pathogenic	Von Hippel-Lindau syndrome	Criteria Provided Single Submitter			1 SubmittersRCV005861944
NM_000551.4(VHL):c.340+1G>T	SNV Germline	Chr3:10142188	Pathogenic	Von Hippel-Lindau syndrome	Criteria Provided Single Submitter			1 SubmittersRCV006272241
NM_000551.4(VHL):c.241C>A (p.Pro81Thr)	SNV Germline	Chr3:10142088	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Chuvash polycythemia Von Hippel-Lindau syndrome	Criteria Provided Conflicting Classifications			2 SubmittersRCV006296029 RCV006569433
NM_000551.4(VHL):c.226T>G (p.Phe76Val)	SNV Germline	Chr3:10142073	Likely pathogenic	Chuvash polycythemia Von Hippel-Lindau syndrome	Criteria Provided Single Submitter			1 SubmittersRCV006599764
NM_000551.4(VHL):c.526A>T (p.Arg176Trp)	SNV Germline	Chr3:10149849	Pathogenic	Chuvash polycythemia Von Hippel-Lindau syndrome	Criteria Provided Single Submitter			1 SubmittersRCV006599765
NM_000551.4(VHL):c.467A>C (p.Tyr156Ser)	SNV Germline	Chr3:10149790	Pathogenic	Chuvash polycythemia Von Hippel-Lindau syndrome	Criteria Provided Single Submitter			1 SubmittersRCV006595788

SNV
Germline/somatic

Chr3:10149871

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA020473

rs_5030823

9 SubmittersRCV000002299 RCV000208867 RCV000703889 RCV003162205 RCV006273043

NM_000551.4(VHL):c.500G>A (p.Arg167Gln)

SNV
Germline

Chr3:10149823

Pathogenic

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

Reviewed By Expert Panel

CA020454

rs_5030821

20 SubmittersRCV000002300 RCV000325074 RCV000213850 RCV000627745 RCV003448242 RCV004760317

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

SNV
Germline/somatic

Chr3:10149804

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA020408

rs_5030818

13 SubmittersRCV000002301 RCV000161091 RCV000492225 RCV000791367 RCV001280922 RCV006253446

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

SNV
Germline/somatic

Chr3:10149822

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA020450

rs_5030820

21 SubmittersRCV000002302 RCV000002303 RCV000132159 RCV000213079 RCV000627746 RCV000763092 RCV003992144

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

SNV
Germline

Chr3:10149822

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA020446

rs_5030820

4 SubmittersRCV000002304 RCV000466046 RCV002336073

NM_000551.4(VHL):c.263G>C (p.Trp88Ser)

SNV
Somatic

Chr3:10142110

Pathogenic

Von Hippel-Lindau syndrome

No Assertion Criteria Provided

CA020202

rs_119103277

1 SubmittersRCV000002306

NM_000551.4(VHL):c.405A>C (p.Leu135Phe)

SNV
Somatic

Chr3:10146578

Pathogenic

Von Hippel-Lindau syndrome

No Assertion Criteria Provided

CA020338

rs_119103278

1 SubmittersRCV000002307

NM_000551.4(VHL):c.334T>C (p.Tyr112His)

SNV
Germline

Chr3:10142181

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA020277

rs_104893824

8 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
Chuvash polycythemia
Von Hippel-Lindau syndrome
Condition: not provided
VHL-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA020246

rs_5030809

17 SubmittersRCV000002309 RCV000492094 RCV000684783 RCV000679029 RCV003891425

NM_000551.4(VHL):c.496G>T (p.Val166Phe)

SNV
Germline

Chr3:10149819

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA020436

rs_104893825

4 SubmittersRCV000002310 RCV000220823 RCV001851578 RCV002288459

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

SNV
Germline

Chr3:10142038

Pathogenic

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

Reviewed By Expert Panel

CA020089

rs_104893826

8 SubmittersRCV000002314 RCV000132356 RCV000208872 RCV000475973 RCV000679019

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

SNV
Germline

Chr3:10142181

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA020273

rs_104893824

4 SubmittersRCV000002316 RCV005222659

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

SNV
Germline

Chr3:10146561

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA020325

rs_104893830

5 SubmittersRCV000002317 RCV000030586 RCV000492250 RCV001071915

NM_000551.4(VHL):c.376G>T (p.Asp126Tyr)

SNV
Germline

Chr3:10146549

Likely pathogenic

Chuvash polycythemia
Von Hippel-Lindau syndrome
Chuvash polycythemia

Criteria Provided
Single Submitter

CA020319

rs_104893831

2 SubmittersRCV000002318 RCV001236092

NM_000551.4(VHL):c.488T>C (p.Leu163Pro)

SNV
Germline

Chr3:10149811

Likely pathogenic

RENAL CELL CARCINOMA WITH PARANEOPLASTIC ERYTHROCYTOSIS
Von Hippel-Lindau syndrome
Chuvash polycythemia
Hereditary cancer-predisposing syndrome
Von Hippel-Lindau syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA020423

rs_28940297

4 SubmittersRCV000002319 RCV001231697 RCV003298026 RCV004018540

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

SNV
Germline

Chr3:10149921

Conflicting classifications of pathogenicity

Chuvash polycythemia
Von Hippel-Lindau syndrome
not specified
Condition: not provided
Hereditary cancer-predisposing syndrome
Von Hippel-Lindau syndrome
Chuvash polycythemia
Acute leukemia of ambiguous lineage
Nonpapillary renal cell carcinoma
Nonpapillary renal cell carcinoma
Von Hippel-Lindau syndrome
Pheochromocytoma
Chuvash polycythemia
VHL-related disorder
Inherited phaeochromocytoma and paraganglioma excluding NF1

Criteria Provided
Conflicting Classifications

CA020510

rs_28940298

30 SubmittersRCV000002320 RCV000148922 RCV000122262 RCV000161094 RCV000574264 RCV000627742 RCV000722031 RCV002247239 RCV005024991 RCV004742206 RCV005865151

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

SNV
Germline

Chr3:10149897

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA020501

rs_28940300

8 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/somatic

Chr3:10142124

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA020230

rs_5030808

8 SubmittersRCV000002325 RCV000208813 RCV000698471 RCV002433441 RCV003460405 RCV004998072

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

SNV
Germline

Chr3:10149814

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA020429

rs_267607170

5 SubmittersRCV000002326 RCV001052383 RCV001023261

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

SNV
Germline

Chr1:17033078

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA015643

rs_74315366

16 SubmittersRCV000013616 RCV000037718 RCV000215883 RCV000183211 RCV000627749 RCV000763272 RCV003233026

NM_000551.4(VHL):c.242C>T (p.Pro81Leu)

SNV
Germline

Chr3:10142089

Pathogenic/Likely pathogenic

Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
Von Hippel-Lindau syndrome
Chuvash polycythemia
Condition: not provided
Chuvash polycythemia
Inherited phaeochromocytoma and paraganglioma excluding NF1

Criteria Provided
Multiple Submitters
No Conflicts

CA020154

rs_193922608

13 SubmittersRCV000030582 RCV000129974 RCV001034657 RCV001547784 RCV003460493 RCV005865196

NM_000551.4(VHL):c.320G>C (p.Arg107Pro)

SNV
Germline

Chr3:10142167

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA020262

rs_193922609

5 SubmittersRCV000030583 RCV000486047 RCV000492682 RCV000816283

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

SNV
Germline

Chr3:10146544

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA020308

rs_193922610

6 SubmittersRCV000679036 RCV004678597 RCV005222710 RCV005237435 RCV005394178

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

SNV
Germline

Chr3:10146631

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA020365

rs_193922611

3 SubmittersRCV000030587 RCV001022748 RCV006555351

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

SNV
Germline

Chr3:10149847

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA020462

rs_193922613

5 SubmittersRCV000030589 RCV000492408 RCV000533687 RCV004700288

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

SNV
Germline

Chr3:10142041

Pathogenic

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

Reviewed By Expert Panel

CA020099

rs_5030826

12 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
Von Hippel-Lindau syndrome
Chuvash polycythemia
Nonpapillary renal cell carcinoma
Von Hippel-Lindau syndrome
Pheochromocytoma
Chuvash polycythemia

Criteria Provided
Multiple Submitters
No Conflicts

CA020108

rs_5030802

9 SubmittersRCV000036540 RCV000492137 RCV001379599 RCV005394221

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

SNV
Germline

Chr3:10142166

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA020257

rs_397516440

3 SubmittersRCV000036542 RCV000763091 RCV002321506

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

SNV
Germline

Chr3:10149790

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA020394

rs_397516441

8 SubmittersRCV000036543 RCV000487045 RCV000492752 RCV000631280

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

SNV
Germline

Chr3:10146638

Likely pathogenic

Von Hippel-Lindau syndrome

No Assertion Criteria Provided

CA020373

rs_5030814

1 SubmittersRCV000036545

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

SNV
Germline

Chr3:10149786

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA020389

rs_5030817

6 SubmittersRCV000036546 RCV000724861 RCV001067480 RCV004948143 RCV005031474

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

SNV
Germline

Chr3:10149808

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA020418

rs_397516444

5 SubmittersRCV000036548 RCV002513389

NM_000551.4(VHL):c.497T>C (p.Val166Ala)

SNV
Germline

Chr3:10149820

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA020442

rs_397516445

5 SubmittersRCV000036549 RCV001023359 RCV001701727

NM_000551.4(VHL):c.233A>G (p.Asn78Ser)

SNV
Germline

Chr3:10142080

Pathogenic

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

Reviewed By Expert Panel

CA020131

rs_5030804

12 SubmittersRCV000079207 RCV000254892 RCV000492165 RCV001034687

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

SNV
Germline

Chr3:10142103

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA020174

rs_398123481

5 SubmittersRCV000079208 RCV000723702 RCV001227827 RCV004686575

NM_000551.4(VHL):c.326T>A (p.Ile109Asn)

SNV
Germline

Chr3:10142173

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA020268

rs_398123482

4 SubmittersRCV000079209 RCV000767256 RCV002321574

NM_000243.3(MEFV):c.265G>A (p.Ala89Thr)

SNV
Germline

Chr16:3256323

Conflicting classifications of pathogenicity

Familial Mediterranean fever
not specified
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever, autosomal dominant
Von Hippel-Lindau syndrome

Criteria Provided
Conflicting Classifications

CA280577

rs_104895124

8 SubmittersRCV000083765 RCV002281918 RCV002483164 RCV003126470 RCV003126469 RCV005862973

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

SNV
Germline

Chr3:10149952

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA020530

rs_138780791

12 SubmittersRCV000115743 RCV000119153 RCV000627744 RCV000492305 RCV002267856 RCV003935103

NM_000551.4(VHL):c.445G>T (p.Ala149Ser)

SNV
Germline

Chr3:10146618

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA020355

rs_587780077

5 SubmittersRCV000115746 RCV000208783 RCV000492260 RCV001854559

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

SNV
Germline

Chr3:10141850

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA020331

rs_578091032

14 SubmittersRCV000122260 RCV000409700 RCV000467198 RCV000492595 RCV000657025 RCV002483231

NM_000551.4(VHL):c.558A>C (p.Glu186Asp)

SNV
Germline

Chr3:10149881

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA020484

rs_587778744

3 SubmittersRCV000122261 RCV001038969 RCV003162559

NM_000551.4(VHL):c.191G>A (p.Arg64His)

SNV
Germline

Chr3:10142038

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA020083

rs_104893826

6 SubmittersRCV000123103 RCV001588972 RCV004678616 RCV004567063 RCV004804123

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

SNV
Germline

Chr3:10141872

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA020190

rs_587780730

11 SubmittersRCV000123104 RCV000524493 RCV001657771 RCV002426672 RCV003460872 RCV004742271

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

SNV
Germline

Chr3:10142121

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA020217

rs_587780731

5 SubmittersRCV000123105 RCV001016495 RCV004786385 RCV005025201

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.256C>T (p.Pro86Ser)

SNV
Germline

Chr3:10142103

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA020180

rs_398123481

9 SubmittersRCV000155449 RCV000413630 RCV000492763 RCV001059327 RCV004813063

NM_000551.4(VHL):c.351G>T (p.Trp117Cys)

SNV
Germline

Chr3:10146524

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA020294

rs_727504215

4 SubmittersRCV000154124 RCV000723964 RCV001020510

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

SNV
Germline

Chr3:10141843

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA020514

rs_35793832

10 SubmittersRCV000566000 RCV000679011 RCV001818360 RCV002053943 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
Von Hippel-Lindau syndrome
Nonpapillary renal cell carcinoma
Chuvash polycythemia
Pheochromocytoma
Von Hippel-Lindau syndrome
Nonpapillary renal cell carcinoma

Criteria Provided
Conflicting Classifications

CA020518

rs_111246617

14 SubmittersRCV000161089 RCV000168429 RCV000294881 RCV000492422 RCV000781920 RCV003416030 RCV005359388 RCV005025251

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

SNV
Germline

Chr3:10142041

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA020104

rs_5030826

4 SubmittersRCV000626711 RCV001389259 RCV004948200

NM_000551.4(VHL):c.227T>C (p.Phe76Ser)

SNV
Germline

Chr3:10142074

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA020125

rs_730882033

2 SubmittersRCV000767238 RCV006555516

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

SNV
Germline

Chr3:10142104

Pathogenic

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

Reviewed By Expert Panel

CA020186

rs_730882034

6 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
Chuvash polycythemia
Von Hippel-Lindau syndrome

Reviewed By Expert Panel

CA020197

rs_119103277

8 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

Chr3:10142188

Pathogenic/Likely pathogenic

Von Hippel-Lindau syndrome
Chuvash polycythemia
Von Hippel-Lindau syndrome
Condition: not provided
Clear cell carcinoma of kidney
Thyroid cancer, nonmedullary, 1

Criteria Provided
Multiple Submitters
No Conflicts

CA020282

rs_730882032

4 SubmittersRCV000589885 RCV001850279 RCV003328124 RCV005888583 RCV005888584

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
VHL-related disorder
Inherited phaeochromocytoma and paraganglioma excluding NF1
Chuvash polycythemia
Pheochromocytoma
Von Hippel-Lindau syndrome
Nonpapillary renal cell carcinoma

Criteria Provided
Multiple Submitters
No Conflicts

CA020413

rs_730882035

14 SubmittersRCV000161092 RCV000208848 RCV000456958 RCV000563066 RCV004742286 RCV005865254 RCV005394565

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

SNV
Germline

Chr3:10149848

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA020466

rs_5030835

2 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
VHL-related disorder

Criteria Provided
Conflicting Classifications

CA020534

rs_200019083

13 SubmittersRCV000161101 RCV000287076 RCV000541199 RCV001025130 RCV001704152 RCV004742287

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

SNV
Germline

Chr3:10142056

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA020113

rs_786202857

5 SubmittersRCV000165891 RCV000227354 RCV001545934 RCV003462191 RCV005025264

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

SNV
Germline

Chr3:10142085

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA020142

rs_786202787

4 SubmittersRCV000165774 RCV001388793 RCV002307423

NM_000551.4(VHL):c.275A>T (p.Asp92Val)

SNV
Germline

Chr3:10142122

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA020224

rs_749091984

10 SubmittersRCV000163954 RCV000412307 RCV000525495 RCV000679028 RCV002485013 RCV003462123 RCV003389706

NM_000551.4(VHL):c.245G>C (p.Arg82Pro)

SNV
Germline

Chr3:10142092

Pathogenic

Von Hippel-Lindau syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA020159

rs_794726890

3 SubmittersRCV000173161 RCV000724457

NM_000551.4(VHL):c.586A>T (p.Lys196Ter)

SNV
Germline

Chr3:10149909

Pathogenic

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

Reviewed By Expert Panel

CA020507

rs_281860296

6 SubmittersRCV000177084 RCV000724622 RCV003765094

NM_000551.4(VHL):c.416C>T (p.Ser139Phe)

SNV
Germline

Chr3:10146589

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA336394

rs_587780732

3 SubmittersRCV001317982 RCV003462331 RCV004020464

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

SNV
Germline

Chr3:10142140

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA279916

rs_864321643

5 SubmittersRCV000203508 RCV000208847 RCV001064921 RCV002433899 RCV004721296

NM_000551.4(VHL):c.307C>G (p.Pro103Ala)

SNV
Germline

Chr3:10142154

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA348715

rs_864622267

2 SubmittersRCV001018501 RCV001370713

NM_000551.4(VHL):c.321C>T (p.Arg107=)

SNV
Germline

Chr3:10142168

Conflicting classifications of pathogenicity

Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA348868

rs_864622334

2 SubmittersRCV000204667 RCV004948213

NM_000551.4(VHL):c.337C>T (p.Arg113Ter)

SNV
Germline

Chr3:10142184

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA348491

rs_5030810

4 SubmittersRCV000204250 RCV000456132 RCV003165497 RCV006263756

NM_000551.4(VHL):c.544A>G (p.Arg182Gly)

SNV
Germline

Chr3:10149867

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA041490

rs_778205243

9 SubmittersRCV000204757 RCV000235376 RCV000663322 RCV001024120 RCV004567477 RCV005031779

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

SNV
Germline

Chr3:10149951

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA041992

rs_774380450

11 SubmittersRCV000204248 RCV000568942 RCV000662950 RCV001582712 RCV002467673 RCV003468958 RCV005031778 RCV005230083

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

SNV
Germline/somatic

Chr3:10142040

Likely pathogenic

Von Hippel-Lindau syndrome
Pheochromocytoma

No Assertion Criteria Provided

CA357048

rs_869025616

2 SubmittersRCV000208812 RCV006253891

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

SNV
Germline

Chr3:10142041

Pathogenic

Von Hippel-Lindau syndrome
Chuvash polycythemia
Von Hippel-Lindau syndrome
Chuvash polycythemia
Condition: not provided
Hereditary cancer-predisposing syndrome
Clear cell carcinoma of kidney

Criteria Provided
Multiple Submitters
No Conflicts

CA357085

rs_5030826

8 SubmittersRCV000208831 RCV001213116 RCV002509303 RCV003233497 RCV005761983 RCV005893810

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

SNV
Germline

Chr3:10142050

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA357051

rs_869025617

3 SubmittersRCV000208815 RCV001389820 RCV004948217

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

SNV
Germline

Chr3:10142061

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA357006

rs_869025618

4 SubmittersRCV000208787 RCV000492124 RCV001382227

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

SNV
Germline

Chr3:10142064

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA357036

rs_869025619

4 SubmittersRCV000208804 RCV000679022 RCV001218191 RCV005771954

NM_000551.4(VHL):c.232A>T (p.Asn78Tyr)

SNV
Germline

Chr3:10142079

Likely pathogenic

Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Single Submitter

CA357056

rs_869025621

2 SubmittersRCV000208818 RCV000568344

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

SNV
Germline

Chr3:10142080

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA357095

rs_5030804

3 SubmittersRCV000208838 RCV000679024 RCV000805326

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

SNV
Germline

Chr3:10142080

Likely pathogenic

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

Criteria Provided
Single Submitter

CA357063

rs_5030804

2 SubmittersRCV000208821 RCV000803184

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

SNV
Germline

Chr3:10142104

Pathogenic/Likely pathogenic

Von Hippel-Lindau syndrome
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

Likely pathogenic

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

Reviewed By Expert Panel

CA357078

rs_869025622

5 SubmittersRCV000208827 RCV000492552 RCV000537014

NM_000551.4(VHL):c.269A>T (p.Asn90Ile)

SNV
Germline

Chr3:10142116

Likely pathogenic

Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Single Submitter

CA357043

rs_143985153

2 SubmittersRCV000208809 RCV002426982

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

SNV
Germline

Chr3:10142124

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA357130

rs_5030808

3 SubmittersRCV000208861 RCV001035237 RCV002433917

NM_000551.4(VHL):c.277G>T (p.Gly93Cys)

SNV
Germline

Chr3:10142124

Pathogenic

Von Hippel-Lindau syndrome

No Assertion Criteria Provided

CA357106

rs_5030808

1 SubmittersRCV000208845

NM_000551.4(VHL):c.293A>G (p.Tyr98Cys)

SNV
Germline

Chr3:10142140

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA357072

rs_864321643

5 SubmittersRCV000208825 RCV001357107 RCV001218807 RCV005771955

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

SNV
Germline

Chr3:10142158

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA357033

rs_869025630

6 SubmittersRCV000208803 RCV000679030 RCV005222830

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

SNV
Germline

Chr3:10142167

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA357135

rs_193922609

4 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
Chuvash polycythemia
Von Hippel-Lindau syndrome

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

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA357115

rs_869025633

6 SubmittersRCV000208852 RCV000219736 RCV000631262 RCV001289414

NM_000551.4(VHL):c.340G>C (p.Gly114Arg)

SNV
Germline

Chr3:10142187

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA357101

rs_869025636

4 SubmittersRCV000208843 RCV003765349 RCV005512713

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

SNV
Germline

Chr3:10142188

Pathogenic

Von Hippel-Lindau syndrome
Chuvash polycythemia
Von Hippel-Lindau syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Clear cell carcinoma of kidney

Criteria Provided
Multiple Submitters
No Conflicts

CA357042

rs_730882032

6 SubmittersRCV000208808 RCV001044454 RCV001701877 RCV004020566 RCV005893811

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

SNV
Germline

Chr3:10146512

Pathogenic

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

Reviewed By Expert Panel

CA357004

rs_869025637

4 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

Likely pathogenic

Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Single Submitter

CA357127

rs_869025643

2 SubmittersRCV000208860 RCV004678642

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

SNV
Germline

Chr3:10146587

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA357138

rs_869025648

7 SubmittersRCV000216698 RCV000208865 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
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA357109

rs_869025650

3 SubmittersRCV000208850 RCV000692586 RCV004948219

NM_000551.4(VHL):c.445G>A (p.Ala149Thr)

SNV
Germline

Chr3:10146618

Pathogenic

Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Single Submitter

CA357066

rs_587780077

2 SubmittersRCV000208822 RCV002327073

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

SNV
Germline

Chr3:10146618

Pathogenic

Von Hippel-Lindau syndrome
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/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA357026

rs_869025659

4 SubmittersRCV000208799 RCV002515564 RCV004596112

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

SNV
Germline

Chr3:10146637

Likely pathogenic

Von Hippel-Lindau syndrome
Clear cell carcinoma of kidney
Hereditary cancer-predisposing syndrome

Criteria Provided
Single Submitter

CA357023

rs_869025657

3 SubmittersRCV000208796 RCV005893812 RCV005298462

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

SNV
Germline

Chr3:10149785

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA357046

rs_5030816

7 SubmittersRCV000208810 RCV000216737 RCV000824251 RCV001535844 RCV001542804 RCV004725066 RCV005893816 RCV005893817

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

SNV
Germline

Chr3:10149786

Pathogenic

Von Hippel-Lindau syndrome
Condition: not provided
Clear cell carcinoma of kidney
Nonpapillary renal cell carcinoma

Criteria Provided
Single Submitter

CA357081

rs_5030817

4 SubmittersRCV000208828 RCV001706206 RCV005893814 RCV005893813

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

SNV
Germline

Chr3:10149786

Pathogenic/Likely pathogenic

Von Hippel-Lindau syndrome
Chuvash polycythemia
Von Hippel-Lindau syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Clear cell carcinoma of kidney

Criteria Provided
Multiple Submitters
No Conflicts

CA357144

rs_5030817

5 SubmittersRCV000208870 RCV001853330 RCV003329261 RCV005298463 RCV005893815

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

SNV
Germline/somatic

Chr3:10149793

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA357133

rs_869025660

4 SubmittersRCV000208862 RCV001289415 RCV004678643 RCV006253892

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/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA357016

rs_5030622

7 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
Chuvash polycythemia
Von Hippel-Lindau syndrome
Chuvash polycythemia
Nonpapillary renal cell carcinoma
Pheochromocytoma
Von Hippel-Lindau syndrome
VHL-related disorder
Chuvash polycythemia
Hereditary cancer

Criteria Provided
Conflicting Classifications

CA041601

rs_561874453

14 SubmittersRCV000208797 RCV000236099 RCV000565491 RCV000631260 RCV002485365 RCV003422117 RCV003462397 RCV005230091

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

SNV
Germline

Chr3:10149878

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA357075

rs_864622109

3 SubmittersRCV000208826 RCV000219064 RCV001377065

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

SNV
Germline

Chr3:10149916

Pathogenic/Likely pathogenic

Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA357145

rs_869025667

4 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
Chuvash polycythemia
Von Hippel-Lindau syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10578180

rs_5030827

6 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
Chuvash polycythemia
Von Hippel-Lindau syndrome
Nonpapillary renal cell carcinoma
Pheochromocytoma

Criteria Provided
Conflicting Classifications

CA040825

rs_578091032

11 SubmittersRCV000228663 RCV000236708 RCV000411808 RCV000562501 RCV002307459 RCV002487052

NM_000551.4(VHL):c.7C>T (p.Arg3Trp)

SNV
Germline

Chr3:10141854

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10582110

rs_878854130

5 SubmittersRCV000226904 RCV002418000 RCV003226914 RCV005401394

NM_000551.4(VHL):c.134C>G (p.Pro45Arg)

SNV
Germline

Chr3:10141981

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA039433

rs_199583685

7 SubmittersRCV000236098 RCV001011022 RCV001081208 RCV003998847

NM_000551.4(VHL):c.172C>T (p.Arg58Trp)

SNV
Germline

Chr3:10142019

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA039640

rs_757781272

8 SubmittersRCV000230639 RCV000663291 RCV001012878 RCV002500764 RCV003151759

NM_000551.4(VHL):c.541G>A (p.Val181Ile)

SNV
Germline

Chr3:10149864

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10582117

rs_878854127

8 SubmittersRCV000229544 RCV000662874 RCV002257540 RCV002465580 RCV003153527

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

SNV
Germline

Chr3:10146640

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10584230

rs_879253989

6 SubmittersRCV000560865 RCV000679042 RCV001022813 RCV003998905 RCV005025396

NM_000551.4(VHL):c.578A>G (p.Asn193Ser)

SNV
Germline

Chr3:10149901

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10584231

rs_879254225

6 SubmittersRCV000236061 RCV000537589 RCV001024530 RCV003998924 RCV004567785

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

SNV
Germline

Chr3:10146567

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA10606205

rs_5030813

4 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
Von Hippel-Lindau syndrome
Chuvash polycythemia
VHL-related disorder

Criteria Provided
Conflicting Classifications

CA10614384

rs_772944298

6 SubmittersRCV000330011 RCV000679013 RCV002256218 RCV002057820 RCV003892005

NM_000551.4(VHL):c.167C>G (p.Ala56Gly)

SNV
Germline

Chr3:10142014

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA039566

rs_752980085

10 SubmittersRCV000409162 RCV000530730 RCV000782251 RCV001012691 RCV002481266 RCV003470356 RCV005238961

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

SNV
Germline

Chr3:10141875

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16043991

rs_1057519261

9 SubmittersRCV000415643 RCV000476548 RCV001016912 RCV001584111 RCV002488864 RCV003463824

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

SNV
Germline

Chr3:10149972

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA042089

rs_778005138

5 SubmittersRCV001703586 RCV004742417 RCV005600907

NM_000551.4(VHL):c.-15T>C

SNV
Germline

Chr3:10141833

Conflicting classifications of pathogenicity

not specified
Von Hippel-Lindau syndrome

Criteria Provided
Conflicting Classifications

CA039536

rs_776768994

2 SubmittersRCV000426271 RCV006550015

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

SNV
Germline

Chr3:10141848

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16611052

rs_1060503557

8 SubmittersRCV000458939 RCV000579235 RCV000663055 RCV002418424 RCV005027533

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

SNV
Germline

Chr3:10141890

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16611060

rs_1060503568

4 SubmittersRCV000457623 RCV002329080 RCV003470500 RCV004001994

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

SNV
Germline

Chr3:10142082

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16611065

rs_200885420

4 SubmittersRCV000475786 RCV002475891 RCV004022892 RCV004722797

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

SNV
Germline

Chr3:10141962

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA039367

rs_768650092

4 SubmittersRCV000463141 RCV001550254 RCV002356707

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

SNV
Germline

Chr3:10146602

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA040956

rs_773556807

7 SubmittersRCV000470382 RCV000564320 RCV000613763 RCV002056727 RCV004002229 RCV005027539

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

SNV
Germline/somatic

Chr3:10146635

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16611069

rs_1060503562

3 SubmittersRCV000474447 RCV003317229 RCV003322605

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

SNV
Germline

Chr3:10149943

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16611076

rs_1060503549

6 SubmittersRCV000461637 RCV002365666 RCV003317228 RCV004802021 RCV005027532 RCV006458381

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

SNV
Germline

Chr3:10142170

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA040275

rs_367594943

6 SubmittersRCV000458083 RCV001019385 RCV002269278 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
Von Hippel-Lindau syndrome
Chuvash polycythemia
Pheochromocytoma
Nonpapillary renal cell carcinoma

Criteria Provided
Conflicting Classifications

CA040676

rs_375401722

10 SubmittersRCV000462284 RCV000479517 RCV000708764 RCV002272247 RCV002489086

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

SNV
Germline

Chr3:10149871

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA041537

rs_5030823

9 SubmittersRCV000476376 RCV001007624 RCV002349982 RCV003237874 RCV004001991 RCV005027537

NM_000551.4(VHL):c.579T>A (p.Asn193Lys)

SNV
Germline

Chr3:10149902

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16611097

rs_1060503558

2 SubmittersRCV000464021 RCV003168861

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

SNV
Germline

Chr3:10149909

Conflicting classifications of pathogenicity

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

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

Criteria Provided
Conflicting Classifications

CA16611153

rs_1004620245

4 SubmittersRCV000459599 RCV002411515 RCV004802022 RCV005054197

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

SNV
Germline

Chr3:10141868

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16611156

rs_1060503561

6 SubmittersRCV000462197 RCV000574549 RCV001356021 RCV005027534 RCV006550143

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

SNV
Germline

Chr3:10141873

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16611161

rs_1060503560

2 SubmittersRCV000471735 RCV002436462

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

SNV
Germline

Chr3:10141874

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16611250

rs_1017141110

5 SubmittersRCV000456617 RCV002436463 RCV004001988 RCV003441887

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

SNV
Germline

Chr3:10149811

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16611277

rs_28940297

2 SubmittersRCV000474133 RCV005624214

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

SNV
Germline

Chr3:10149936

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA041940

rs_199926195

7 SubmittersRCV000471333 RCV000481600 RCV002356704 RCV004787738 RCV005027535 RCV004568086

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

SNV
Germline

Chr3:10142068

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16617786

rs_5030803

4 SubmittersRCV000484327 RCV000698497 RCV002475938 RCV005298500

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

SNV
Germline

Chr3:10142071

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16617787

rs_1064794271

4 SubmittersRCV000479941 RCV000767237 RCV001201718 RCV004678722

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

SNV
Germline

Chr3:10146566

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16617789

rs_1064794272

5 SubmittersRCV000482784 RCV002525827 RCV005056049 RCV005512750

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

SNV
Germline

Chr3:10149874

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16617792

rs_1064793878

4 SubmittersRCV000484822 RCV001258069 RCV005222956

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

SNV
Germline

Chr3:10149922

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA041791

rs_754016774

8 SubmittersRCV000479035 RCV000823835 RCV001024771 RCV001143974 RCV003401545 RCV003464021

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

SNV
Germline

Chr3:10149937

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA041951

rs_777130107

8 SubmittersRCV000481472 RCV000764460 RCV000631259 RCV001024946 RCV004787783

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

SNV
Germline

Chr3:10142055

Pathogenic

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

Reviewed By Expert Panel

CA16602179

rs_5030802

4 SubmittersRCV000492695 RCV000767235 RCV000679020

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

SNV
Germline

Chr3:10142097

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA351750580

rs_5030827

7 SubmittersRCV000492467 RCV000631269 RCV000767245 RCV004721392

NM_000551.4(VHL):c.286C>T (p.Gln96Ter)

SNV
Germline

Chr3:10142133

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA351750811

rs_1131690959

2 SubmittersRCV000492143 RCV006556089

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

SNV
Germline

Chr3:10146511

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16020704

rs_1131690965

3 SubmittersRCV000492211 RCV000767259 RCV006556090

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

SNV
Germline

Chr3:10146526

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA70049399

rs_5030830

5 SubmittersRCV000492175 RCV000801496 RCV001702663 RCV004591439

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
Chuvash polycythemia
Von Hippel-Lindau syndrome

Criteria Provided
Conflicting Classifications

CA645369331

rs_1131690954

7 SubmittersRCV000492736 RCV000587888 RCV001809448 RCV003316644 RCV005222967

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

SNV
Germline

Chr3:10149823

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA351756177

rs_5030821

3 SubmittersRCV000492510 RCV000767282 RCV006556088

NM_000551.4(VHL):c.506T>C (p.Leu169Pro)

SNV
Germline

Chr3:10149829

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA351756191

rs_1131690962

3 SubmittersRCV000492632 RCV003766762 RCV005899759

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

SNV
Germline

Chr3:10149856

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA351756245

rs_5030822

6 SubmittersRCV000492520 RCV000631291 RCV000767287 RCV004701555

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

SNV
Germline

Chr3:10149904

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA351756475

rs_1131690963

4 SubmittersRCV000492180 RCV000547627 RCV005056071 RCV005398712

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

SNV
Germline

Chr3:10149906

Pathogenic

Hereditary cancer-predisposing syndrome
Von Hippel-Lindau syndrome

Reviewed By Expert Panel

CA70052558

rs_5030825

4 SubmittersRCV000492237 RCV001030024

NM_000551.4(VHL):c.53C>T (p.Ala18Val)

SNV
Germline

Chr3:10141900

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA351747282

rs_1553619302

4 SubmittersRCV000527264 RCV002350176 RCV003233701 RCV004003777

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

SNV
Germline

Chr3:10142136

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA351750843

rs_863224688

3 SubmittersRCV000536081 RCV005298511 RCV006550311

NM_000551.4(VHL):c.22T>C (p.Trp8Arg)

SNV
Germline

Chr3:10141869

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA351747057

rs_1352171735

5 SubmittersRCV000559388 RCV003478129 RCV004787842 RCV005298510

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

SNV
Germline

Chr3:10141878

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA351747101

rs_1236604706

4 SubmittersRCV000554589 RCV000764457 RCV001019152 RCV004791523

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

SNV
Germline

Chr3:10142109

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA351750671

rs_1553619431

7 SubmittersRCV000558602 RCV000587190 RCV000679026 RCV002431533 RCV003459186

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

SNV
Germline

Chr3:10146550

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA351753841

rs_1354593943

3 SubmittersRCV000553383 RCV001021117 RCV001764530

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

SNV
Germline

Chr3:10146558

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA040752

rs_369018004

4 SubmittersRCV000546965 RCV002358438 RCV005620962

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

SNV
Germline

Chr3:10149815

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA351756157

rs_1352275281

4 SubmittersRCV000538803 RCV003330751 RCV002508221 RCV003302779

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

SNV
Germline

Chr3:10141859

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA432536137

rs_1553619274

5 SubmittersRCV000551863 RCV002384044 RCV005620959 RCV004592548

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

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

Criteria Provided
Conflicting Classifications

CA70042269

rs_912159589

6 SubmittersRCV000555182 RCV001150097 RCV002384045

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

SNV
Germline

Chr3:10141952

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA432536266

rs_1310829877

8 SubmittersRCV000542575 RCV001009767 RCV001150098 RCV001797098

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

SNV
Germline

Chr3:10142159

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA70046276

rs_946898891

7 SubmittersRCV000539418 RCV001018749 RCV001545850 RCV003392366 RCV005034085 RCV005620961

NM_000551.4(VHL):c.614G>T (p.Arg205Leu)

SNV
Germline

Chr3:10149937

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA351756661

rs_777130107

3 SubmittersRCV000526063 RCV002358439 RCV004003778

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

SNV
Germline

Chr3:10146558

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA040734

rs_369018004

6 SubmittersRCV000568082 RCV000707457 RCV003441963 RCV004787963

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

SNV
Germline

Chr3:10142149

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA351751000

rs_1553619456

2 SubmittersRCV000574983 RCV001858152

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

SNV
Germline

Chr3:10149810

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA351756135

rs_1553620318

3 SubmittersRCV000561095 RCV001224534 RCV005056204

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

SNV
Germline

Chr3:10146633

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA351754405

rs_1553619993

4 SubmittersRCV000566330 RCV001046833 RCV001420952

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

SNV
Germline

Chr3:10149831

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA351756194

rs_1553620326

8 SubmittersRCV000569840 RCV001210329 RCV002483543 RCV003322793 RCV004568224 RCV006552434

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

SNV
Germline

Chr3:10142125

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA351750781

rs_1553619440

5 SubmittersRCV000586256 RCV001853983 RCV005000363

NM_000551.4(VHL):c.313A>C (p.Thr105Pro)

SNV
Germline/somatic

Chr3:10142160

Pathogenic

Von Hippel-Lindau syndrome

Criteria Provided
Single Submitter

CA351751116

rs_1553619461

2 SubmittersRCV000589007

NM_000551.4(VHL):c.395A>C (p.Gln132Pro)

SNV
Germline

Chr3:10146568

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA351753958

rs_1347416980

3 SubmittersRCV000589183 RCV002377215 RCV005223019

NM_000551.4(VHL):c.355T>C (p.Phe119Leu)

SNV
Germline

Chr3:10146528

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA351753707

rs_1553619948

3 SubmittersRCV000588483 RCV000631289 RCV002456285

NM_000551.4(VHL):c.407T>G (p.Phe136Cys)

SNV
Germline

Chr3:10146580

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA70049495

rs_5030833

4 SubmittersRCV000589290 RCV000767268 RCV006556306

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

SNV
Germline

Chr3:10142085

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16621913

rs_786202787

2 SubmittersRCV000590356 RCV006556305

NM_000551.4(VHL):c.388G>T (p.Val130Phe)

SNV
Germline

Chr3:10146561

Pathogenic

Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA351753913

rs_104893830

3 SubmittersRCV000588434 RCV004024678

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

SNV
Germline

Chr3:10142109

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA351750667

rs_1553619431

3 SubmittersRCV000589476 RCV000631292

NM_000551.4(VHL):c.392A>G (p.Asn131Ser)

SNV
Germline

Chr3:10146565

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA351753941

rs_1553619963

3 SubmittersRCV000590750 RCV002225684 RCV002530908

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

SNV
Germline

Chr3:10149807

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA351756117

rs_1553620313

3 SubmittersRCV000587033 RCV001060967

NM_000551.4(VHL):c.345C>A (p.His115Gln)

SNV
Germline

Chr3:10146518

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA351753631

rs_864622646

3 SubmittersRCV000588324 RCV001044333 RCV005231141

NM_000551.4(VHL):c.382C>T (p.Leu128Phe)

SNV
Germline

Chr3:10146555

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA351753886

rs_1553619956

2 SubmittersRCV001232610 RCV005240275

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

SNV
Germline

Chr3:10146580

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA040847

rs_5030833

5 SubmittersRCV000587621 RCV000679038 RCV003767339

NM_000551.4(VHL):c.-44G>T

SNV
Germline

Chr3:10141804

Conflicting classifications of pathogenicity

not specified
Von Hippel-Lindau syndrome
Chuvash polycythemia

Criteria Provided
Conflicting Classifications

CA70042011

rs_929301467

2 SubmittersRCV000615943 RCV005223047

NM_000551.4(VHL):c.-48C>G

SNV
Germline

Chr3:10141800

Conflicting classifications of pathogenicity

not specified
Von Hippel-Lindau syndrome
Chuvash polycythemia

Criteria Provided
Conflicting Classifications

CA658796230

rs_973379327

2 SubmittersRCV000608452 RCV006556378

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

SNV
Germline

Chr3:10141801

Conflicting classifications of pathogenicity

not specified
Von Hippel-Lindau syndrome
Chuvash polycythemia

Criteria Provided
Conflicting Classifications

CA041298

rs_745439844

3 SubmittersRCV000613129 RCV003767559

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

SNV
Germline

Chr3:10141838

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA541213514

rs_1192379474

3 SubmittersRCV000609650 RCV002498924 RCV004802290

NM_000551.4(VHL):c.216C>T (p.Ser72=)

SNV
Germline

Chr3:10142063

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA039823

rs_774557051

5 SubmittersRCV000631303 RCV002431859 RCV003497874

NM_000551.4(VHL):c.341-8C>G

SNV
Germline

Chr3:10146506

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA658795339

rs_1272767361

2 SubmittersRCV000631265 RCV006552542

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

SNV
Germline

Chr3:10149823

Pathogenic

Chuvash polycythemia
Von Hippel-Lindau syndrome

Criteria Provided
Single Submitter

CA351756178

rs_5030821

1 SubmittersRCV000631284

NM_000551.4(VHL):c.245G>T (p.Arg82Leu)

SNV
Germline

Chr3:10142092

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA351750555

rs_794726890

4 SubmittersRCV000631271 RCV001553666 RCV002448934

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

SNV
Germline

Chr3:10142145

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA040192

rs_745901803

9 SubmittersRCV000631270 RCV000997987 RCV002255483 RCV002477380 RCV004788047

NM_000551.4(VHL):c.460C>G (p.Pro154Ala)

SNV
Germline

Chr3:10146633

Likely pathogenic

Chuvash polycythemia
Von Hippel-Lindau syndrome

Criteria Provided
Single Submitter

CA351754403

rs_1553619993

1 SubmittersRCV000631264

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

SNV
Germline

Chr3:10146637

Pathogenic

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

Reviewed By Expert Panel

CA16621909

rs_869025657

5 SubmittersRCV000631276 RCV000714168 RCV002334057 RCV004691263

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

SNV
Germline

Chr3:10142138

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA70046209

rs_1805159

4 SubmittersRCV000631295 RCV001143971 RCV002438649

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

SNV
Germline

Chr3:10149898

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA351756444

rs_902694906

6 SubmittersRCV000631274 RCV000767296 RCV000679044 RCV002343200

NM_000551.4(VHL):c.193T>C (p.Ser65Pro)

SNV
Germline

Chr3:10142040

Pathogenic

Von Hippel-Lindau syndrome

Criteria Provided
Single Submitter

CA351748798

rs_869025616

2 SubmittersRCV000660351

NM_000551.4(VHL):c.1A>G (p.Met1Val)

SNV
Germline

Chr3:10141848

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA351747010

rs_1060503557

5 SubmittersRCV000662755 RCV001230391 RCV001784228 RCV002422448

NC_000003.12:g.10141751T>G

SNV
Germline

Chr3:10141751

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA70041931

rs_34271731

5 SubmittersRCV000679016 RCV002060844 RCV002256463 RCV001816688

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

SNV
Germline

Chr3:10141775

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA70041962

rs_1034934219

5 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
Von Hippel-Lindau syndrome

Criteria Provided
Conflicting Classifications

CA658822548

rs_1559428033

6 SubmittersRCV000679033 RCV001442130 RCV002458187 RCV005621014

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

SNV
Germline

Chr3:10141850

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA70042122

rs_578091032

3 SubmittersRCV000707210 RCV002369974 RCV004792421

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

SNV
Germline

Chr3:10142064

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA70042515

rs_869025619

2 SubmittersRCV000686913 RCV002424590

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

SNV
Germline

Chr3:10142111

Pathogenic

Chuvash polycythemia
Von Hippel-Lindau syndrome

Criteria Provided
Single Submitter

CA351750678

rs_869025622

1 SubmittersRCV000704506

NM_000551.4(VHL):c.164A>G (p.Glu55Gly)

SNV
Germline

Chr3:10142011

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA351748514

rs_1328776664

2 SubmittersRCV000696740 RCV005772018

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

SNV
Germline

Chr3:10142187

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA351751372

rs_869025636

3 SubmittersRCV000707336 RCV003353002 RCV006554580

NM_000551.4(VHL):c.341-5G>T

SNV
Germline

Chr3:10146509

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA891843323

rs_372340900

3 SubmittersRCV000688058 RCV005621015 RCV005772015

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

SNV
Germline

Chr3:10146543

Conflicting classifications of pathogenicity

Von Hippel-Lindau syndrome
Chuvash polycythemia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA351753796

rs_1559428091

2 SubmittersRCV000707189 RCV001759423

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

SNV
Germline

Chr3:10149795

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA351756068

rs_1559429613

3 SubmittersRCV000688156 RCV001575396 RCV002334267

NM_000551.4(VHL):c.331A>T (p.Ser111Cys)

SNV
Germline

Chr3:10142178

Pathogenic

Chuvash polycythemia
Von Hippel-Lindau syndrome

Criteria Provided
Single Submitter

CA351751322

rs_1559426203

1 SubmittersRCV000685144

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

SNV
Germline

Chr3:10146638

Pathogenic

Chuvash polycythemia
Von Hippel-Lindau syndrome
Condition: not provided
Clear cell carcinoma of kidney

Criteria Provided
Single Submitter

CA16621936

rs_5030814

3 SubmittersRCV000690034 RCV000786844 RCV005901651

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

SNV
Germline

Chr3:10141935

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA70042258

rs_913104799

5 SubmittersRCV000685906 RCV001018482 RCV002298738 RCV004802352

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

SNV
Germline

Chr3:10142127

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA70046202

rs_5030829

3 SubmittersRCV000767251 RCV000708631 RCV001222557

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

SNV
Germline

Chr3:10149804

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16621941

rs_5030818

3 SubmittersRCV000756901 RCV001855883 RCV002332535

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

SNV
Germline

Chr3:10149815

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA351756154

rs_1352275281

6 SubmittersRCV000756902 RCV001023281 RCV001382402 RCV005870839

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

SNV
Germline

Chr3:10142035

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA351748753

rs_104893827

2 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

CA351748894

rs_869025617

3 SubmittersRCV000767234 RCV001046095 RCV002422648

NM_000551.4(VHL):c.221T>A (p.Val74Asp)

SNV
Germline

Chr3:10142068

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA351749169

rs_5030803

2 SubmittersRCV000767236 RCV001855961

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

SNV
Germline

Chr3:10142074

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA351749231

rs_730882033

3 SubmittersRCV000767239 RCV004027205 RCV005213385

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

SNV
Germline

Chr3:10142079

Pathogenic

Von Hippel-Lindau syndrome

Criteria Provided
Single Submitter

CA351749283

rs_869025621

2 SubmittersRCV000767240

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

SNV
Germline

Chr3:10142079

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA351749284

rs_869025621

4 SubmittersRCV000767241 RCV001869052 RCV002260666

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

SNV
Germline

Chr3:10142086

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16621914

rs_5030805

4 SubmittersRCV000767244 RCV001220559 RCV005512813

NM_000551.4(VHL):c.287A>C (p.Gln96Pro)

SNV
Germline

Chr3:10142134

Conflicting classifications of pathogenicity

Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA351750823

rs_1559426089

2 SubmittersRCV000767252 RCV002440591

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

SNV
Germline

Chr3:10142141

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16621910

rs_1559426115

3 SubmittersRCV000767254 RCV004723159 RCV006556630

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

SNV
Germline

Chr3:10146523

Pathogenic

Von Hippel-Lindau syndrome

Criteria Provided
Single Submitter

CA351753668

rs_1559428056

1 SubmittersRCV000767261

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

SNV
Germline

Chr3:10146530

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA351753726

rs_1559428077

5 SubmittersRCV000767262 RCV000821822 RCV002458373 RCV005638530

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

SNV
Germline

Chr3:10146559

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA351753904

rs_1559428119

2 SubmittersRCV000767264 RCV001855962

NM_000551.4(VHL):c.429C>G (p.Asp143Glu)

SNV
Germline

Chr3:10146602

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA351754191

rs_773556807

3 SubmittersRCV000767271 RCV005286204 RCV006556631

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

SNV
Germline

Chr3:10146606

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA351754219

rs_749704215

2 SubmittersRCV000767273 RCV006556632

NM_000551.4(VHL):c.490C>G (p.Gln164Glu)

SNV
Germline

Chr3:10149813

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA351756145

rs_5030819

2 SubmittersRCV000767279 RCV005213386

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

SNV
Germline

Chr3:10149820

Pathogenic

Von Hippel-Lindau syndrome

Criteria Provided
Single Submitter

CA351756176

rs_397516445

1 SubmittersRCV000767280

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

SNV
Germline

Chr3:10149832

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA351756195

rs_864321642

6 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

CA351756239

rs_1559429717

1 SubmittersRCV000767285

NM_000551.4(VHL):c.533T>A (p.Leu178Gln)

SNV
Germline

Chr3:10149856

Pathogenic

Von Hippel-Lindau syndrome

Criteria Provided
Single Submitter

CA70052370

rs_5030822

1 SubmittersRCV000767288

NM_000551.4(VHL):c.533T>G (p.Leu178Arg)

SNV
Germline

Chr3:10149856

Pathogenic

Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA351756248

rs_5030822

2 SubmittersRCV000767289 RCV003279047

NM_000551.4(VHL):c.563T>A (p.Leu188Gln)

SNV
Germline

Chr3:10149886

Likely pathogenic

Von Hippel-Lindau syndrome

Criteria Provided
Single Submitter

CA351756398

rs_1559429824

1 SubmittersRCV000767293

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

SNV
Germline

Chr3:10149886

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA351756399

rs_1559429824

3 SubmittersRCV000767294 RCV002536595

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

SNV
Germline

Chr3:10149965

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA351756723

rs_1559430011

3 SubmittersRCV000767298 RCV006556633

NM_000551.4(VHL):c.642A>T (p.Ter214Cys)

SNV
Germline

Chr3:10149965

Likely pathogenic

Von Hippel-Lindau syndrome

Criteria Provided
Single Submitter

CA351756724

rs_1559430011

1 SubmittersRCV000767299

NM_000551.4(VHL):c.331A>G (p.Ser111Gly)

SNV
Germline

Chr3:10142178

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA351751321

rs_1559426203

2 SubmittersRCV000780788 RCV001039507

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

SNV
Germline

Chr3:10142183

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA351751359

rs_751232153

4 SubmittersRCV000780787 RCV001068352 RCV003307415 RCV005641801

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

SNV
Germline

Chr3:10141917

Conflicting classifications of pathogenicity

Chuvash polycythemia
Von Hippel-Lindau syndrome
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA351747411

rs_1438223626

2 SubmittersRCV000803089 RCV003153844

NM_000551.4(VHL):c.134C>T (p.Pro45Leu)

SNV
Germline

Chr3:10141981

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA70042375

rs_199583685

4 SubmittersRCV000803524 RCV002381760 RCV003238229 RCV004001665

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

SNV
Germline

Chr3:10142112

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA351750683

rs_1575922124

6 SubmittersRCV000807105 RCV003166260 RCV004001694 RCV005623371 RCV005432435

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

SNV
Germline

Chr3:10146517

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA70049376

rs_5030812

2 SubmittersRCV000822511 RCV003169035

NM_000551.4(VHL):c.461C>T (p.Pro154Leu)

SNV
Germline

Chr3:10146634

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA351754410

rs_1399097617

2 SubmittersRCV000804483 RCV002336632

NM_000551.4(VHL):c.572A>G (p.His191Arg)

SNV
Germline

Chr3:10149895

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA041703

rs_370050374

6 SubmittersRCV000815290 RCV001292677 RCV002345864 RCV005416425

NM_000551.4(VHL):c.340+3A>G

SNV
Germline

Chr3:10142190

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA915941838

rs_1575922597

3 SubmittersRCV000794955 RCV001020206 RCV001592972

NM_000551.4(VHL):c.252G>C (p.Val84=)

SNV
Germline

Chr3:10142099

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA432420469

rs_1436342215

5 SubmittersRCV000923179 RCV003169318 RCV004803302 RCV006261164

NM_000551.4(VHL):c.6C>T (p.Pro2=)

SNV
Germline

Chr3:10141853

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA70042136

rs_1014417508

4 SubmittersRCV000937631 RCV001395391 RCV002363426 RCV005621044

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

SNV
Germline

Chr3:10149963

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA351756718

rs_1575932781

3 SubmittersRCV000987111 RCV001025239 RCV002550599

NM_000551.4(VHL):c.340+770T>C

SNV
Germline

Chr3:10142957

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA896160296

rs_1346312258

10 SubmittersRCV001007626 RCV001238805 RCV003325984 RCV004588452 RCV005298669 RCV005359743

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

SNV
Germline

Chr3:10142092

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA351750549

rs_794726890

2 SubmittersRCV001015609 RCV001219698

NM_000551.4(VHL):c.524A>T (p.Tyr175Phe)

SNV
Germline

Chr3:10149847

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA351756230

rs_193922613

4 SubmittersRCV001023797 RCV001359453 RCV001536627 RCV006545786

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

SNV
Germline

Chr3:10149898

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA70052552

rs_902694906

2 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
Chuvash polycythemia
Von Hippel-Lindau syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA351753591

rs_1575927648

4 SubmittersRCV001020234 RCV003447574 RCV003467657 RCV006556934

NM_000551.4(VHL):c.508G>C (p.Val170Leu)

SNV
Germline

Chr3:10149831

Likely pathogenic

Von Hippel-Lindau syndrome

No Assertion Criteria Provided

CA351756192

rs_1553620326

1 SubmittersRCV001028059

NM_000551.4(VHL):c.17A>C (p.Glu6Ala)

SNV
Germline

Chr3:10141864

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA351747033

rs_1696114029

2 SubmittersRCV001071455 RCV004950253

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

SNV
Germline

Chr3:10141868

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA351747053

rs_1060503561

2 SubmittersRCV001053669 RCV004678922

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

SNV
Germline

Chr3:10141874

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA351747082

rs_1017141110

2 SubmittersRCV001050407 RCV005762158

NM_000551.4(VHL):c.59T>C (p.Val20Ala)

SNV
Germline

Chr3:10141906

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA70042225

rs_929332564

2 SubmittersRCV001047363 RCV002355024

NM_000551.4(VHL):c.151G>C (p.Glu51Gln)

SNV
Germline

Chr3:10141998

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA351748282

rs_1480825246

3 SubmittersRCV001042972 RCV004031308 RCV005029601

NM_000551.4(VHL):c.160A>T (p.Met54Leu)

SNV
Germline

Chr3:10142007

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA351748458

rs_1696125033

2 SubmittersRCV001046725 RCV003307840

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

SNV
Germline

Chr3:10142055

Likely pathogenic

Von Hippel-Lindau syndrome
Chuvash polycythemia

Criteria Provided
Single Submitter

CA351748955

rs_5030802

1 SubmittersRCV001051596

NM_000551.4(VHL):c.253C>G (p.Leu85Val)

SNV
Germline

Chr3:10142100

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA351750604

rs_1422271977

4 SubmittersRCV001043701 RCV002429599 RCV004570144 RCV006545814

NM_000551.4(VHL):c.304C>T (p.Pro102Ser)

SNV
Germline

Chr3:10142151

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA040238

rs_532018719

3 SubmittersRCV001063174 RCV004998628 RCV005298694

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

SNV
Germline

Chr3:10142177

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA351751317

rs_1696140667

2 SubmittersRCV001071787 RCV005512904

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

SNV
Germline

Chr3:10146522

Pathogenic

Chuvash polycythemia
Von Hippel-Lindau syndrome

Criteria Provided
Single Submitter

CA351753662

rs_1696261074

1 SubmittersRCV001069048

NM_000551.4(VHL):c.451A>G (p.Ile151Val)

SNV
Germline

Chr3:10146624

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA351754350

rs_876659313

3 SubmittersRCV001063276 RCV002290579 RCV003160518

NM_000551.4(VHL):c.596A>G (p.Glu199Gly)

SNV
Germline

Chr3:10149919

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA351756560

rs_760690217

6 SubmittersRCV001052780 RCV004597955 RCV004570197 RCV004000055 RCV006287334

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

SNV
Germline

Chr3:10149922

Likely pathogenic

Chuvash polycythemia
Von Hippel-Lindau syndrome

Criteria Provided
Single Submitter

CA041814

rs_754016774

1 SubmittersRCV001042529

NM_000551.4(VHL):c.109G>T (p.Glu37Ter)

SNV
Germline

Chr3:10141956

Conflicting classifications of pathogenicity

Condition: not provided
Chuvash polycythemia
Von Hippel-Lindau syndrome

Criteria Provided
Conflicting Classifications

CA351747760

rs_1338996432

2 SubmittersRCV001092964 RCV002554860

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

SNV
Germline

Chr3:10150035

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA70052740

rs_552290225

8 SubmittersRCV001145867 RCV001512864 RCV001530804 RCV002259085 RCV005419008 RCV004743300

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

SNV
Germline

Chr3:10146535

Likely pathogenic

Von Hippel-Lindau syndrome
Chuvash polycythemia

Criteria Provided
Single Submitter

CA351753756

rs_5030832

1 SubmittersRCV001221169

NM_000551.4(VHL):c.38T>C (p.Val13Ala)

SNV
Germline

Chr3:10141885

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA351747150

rs_1553619289

3 SubmittersRCV001210678 RCV002356899 RCV006545965

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

SNV
Germline

Chr3:10141996

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA351748259

rs_766576246

2 SubmittersRCV001204260 RCV004678990

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

SNV
Germline

Chr3:10142111

Pathogenic

Chuvash polycythemia
Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Von Hippel-Lindau syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA351750677

rs_869025622

5 SubmittersRCV001205532 RCV003163557 RCV005863372 RCV005863371 RCV006450904

NM_000551.4(VHL):c.421A>C (p.Asn141His)

SNV
Germline

Chr3:10146594

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA351754131

rs_1696265107

2 SubmittersRCV001206608 RCV006287352

NM_000551.4(VHL):c.545G>C (p.Arg182Thr)

SNV
Germline

Chr3:10149868

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA351756315

rs_749774529

3 SubmittersRCV001205464 RCV004803562 RCV004950324

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

SNV
Germline

Chr3:10146641

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA70049644

rs_1003364563

4 SubmittersRCV001218453 RCV002339573 RCV004803575

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

SNV
Germline

Chr3:10141977

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA351748058

rs_1575921446

3 SubmittersRCV001233308 RCV002484277 RCV005512962

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

SNV
Germline

Chr3:10149801

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA351756093

rs_1696354965

3 SubmittersRCV001231369 RCV002484264 RCV004951379

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

SNV
Germline

Chr3:10141940

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA351747611

rs_1438911242

6 SubmittersRCV001243676 RCV004034759 RCV005036526 RCV004803600 RCV006258490

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

SNV
Germline

Chr3:10149886

Likely pathogenic

Chuvash polycythemia
Von Hippel-Lindau syndrome

Criteria Provided
Single Submitter

CA351756400

rs_1559429824

1 SubmittersRCV001246640

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

SNV
Germline

Chr3:10141978

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA70042374

rs_1056226386

3 SubmittersRCV001300923 RCV002258187

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

SNV
Germline

Chr3:10142031

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA351748731

rs_747861291

2 SubmittersRCV001295524 RCV002411940

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

SNV
Germline

Chr3:10142142

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA351750899

rs_549807529

2 SubmittersRCV001294550 RCV002437001

NM_000551.4(VHL):c.464-9C>T

SNV
Germline

Chr3:10149778

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA541213526

rs_1238907068

2 SubmittersRCV001294956 RCV004803607

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

SNV
Germline

Chr3:10142037

Likely pathogenic

Von Hippel-Lindau syndrome
Chuvash polycythemia

Criteria Provided
Single Submitter

CA351748769

rs_1487408934

1 SubmittersRCV001322991

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

SNV
Germline

Chr3:10142901

Conflicting classifications of pathogenicity

Von Hippel-Lindau syndrome
Chuvash polycythemia
Pheochromocytoma

Criteria Provided
Conflicting Classifications

CA896160287

rs_1054796088

2 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

CA351753771

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

CA351754317

rs_1696266503

1 SubmittersRCV001317824

NM_000551.4(VHL):c.463G>C (p.Val155Leu)

SNV
Germline

Chr3:10146636

Conflicting classifications of pathogenicity

Von Hippel-Lindau syndrome
Chuvash polycythemia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA351754415

rs_869025659

2 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
Chuvash polycythemia
Pheochromocytoma
Von Hippel-Lindau syndrome

Criteria Provided
Conflicting Classifications

CA351747563

rs_913104799

5 SubmittersRCV001351817 RCV002377495 RCV002486456 RCV004005245

NM_000551.4(VHL):c.145G>C (p.Gly49Arg)

SNV
Germline

Chr3:10141992

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA351748216

rs_1696124265

2 SubmittersRCV001346919 RCV005513024

NM_000551.4(VHL):c.327C>G (p.Ile109Met)

SNV
Germline

Chr3:10142174

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA351751282

rs_863224371

3 SubmittersRCV001338507 RCV002322272 RCV004005152

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

SNV
Germline

Chr3:10142761

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA70046634

rs_982745672

3 SubmittersRCV001344145 RCV004809566 RCV005513020

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

SNV
Germline

Chr3:10143019

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1345067657

rs_1696165411

2 SubmittersRCV001348216 RCV003169706

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

SNV
Germline

Chr3:10149916

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA351756548

rs_869025667

2 SubmittersRCV001377066 RCV005419106

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

SNV
Germline

Chr3:10142086

Pathogenic/Likely pathogenic

Chuvash polycythemia
Von Hippel-Lindau syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA70046108

rs_5030805

2 SubmittersRCV001382228 RCV004590365

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

SNV
Germline

Chr3:10146573

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA351753995

rs_2125128363

2 SubmittersRCV001381653 RCV005601773

NM_000551.4(VHL):c.354C>T (p.Leu118=)

SNV
Germline

Chr3:10146527

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA70049406

rs_1051892430

3 SubmittersRCV001411728 RCV003160644 RCV005621101

NM_000551.4(VHL):c.357C>T (p.Phe119=)

SNV
Germline

Chr3:10146530

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA432421796

rs_1559428077

3 SubmittersRCV001430668 RCV004793489 RCV005772190

NM_000551.4(VHL):c.383T>C (p.Leu128Pro)

SNV
Germline

Chr3:10146556

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA351753889

rs_2125128327

4 SubmittersRCV001577269 RCV002359188 RCV003316842 RCV003771754

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

SNV
Germline

Chr3:10141803

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA70041986

rs_372483939

3 SubmittersRCV001715376 RCV003771863 RCV003968507

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

SNV
Germline

Chr3:10142091

Pathogenic

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

Criteria Provided
Single Submitter

CA351750544

rs_1214305423

2 SubmittersRCV001724795 RCV003771867

NM_000551.4(VHL):c.111G>C (p.Glu37Asp)

SNV
Germline

Chr3:10141958

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA351747799

rs_1398333169

3 SubmittersRCV001758273 RCV001861065 RCV005762340

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

SNV
Germline

Chr3:10142089

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA351750529

rs_193922608

3 SubmittersRCV001771461 RCV001868619 RCV004040282

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

SNV
Germline

Chr3:10149925

Likely pathogenic

Von Hippel-Lindau syndrome

No Assertion Criteria Provided

CA351756590

rs_2125130793

1 SubmittersRCV001786527

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

SNV
Germline

Chr3:10141978

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA351748061

rs_1056226386

2 SubmittersRCV002021926 RCV004946976

NM_000551.4(VHL):c.143T>A (p.Leu48Gln)

SNV
Germline

Chr3:10141990

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA351748198

rs_199959170

3 SubmittersRCV001864672 RCV005762385 RCV006550594

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

SNV
Germline

Chr3:10142040

Pathogenic

Von Hippel-Lindau syndrome
Chuvash polycythemia

Criteria Provided
Single Submitter

CA351748794

rs_869025616

1 SubmittersRCV001929631

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

SNV
Germline

Chr3:10146639

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA645525016

rs_1131690954

3 SubmittersRCV002337111 RCV005925535 RCV001999191

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

SNV
Germline

Chr3:10146564

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA351753934

rs_2125128340

2 SubmittersRCV006554641 RCV002034406

NM_000551.4(VHL):c.148G>C (p.Ala50Pro)

SNV
Germline

Chr3:10141995

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA351748241

rs_1696124466

3 SubmittersRCV002050011 RCV005513108 RCV006258663

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

SNV
Germline

Chr3:10146637

Pathogenic

Chuvash polycythemia
Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
Von Hippel-Lindau syndrome
Clear cell carcinoma of kidney

Criteria Provided
Multiple Submitters
No Conflicts

CA16621935

rs_869025657

4 SubmittersRCV001972698 RCV002331532 RCV004044390 RCV005925360

NM_000551.4(VHL):c.340+5G>A

SNV
Germline

Chr3:10142192

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1345066584

rs_61758376

2 SubmittersRCV001979981 RCV004946927

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

SNV
Germline

Chr3:10141884

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA351747145

rs_919338576

3 SubmittersRCV001927607 RCV004804288 RCV005298922

NM_000551.4(VHL):c.545G>T (p.Arg182Met)

SNV
Germline

Chr3:10149868

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA351756317

rs_749774529

3 SubmittersRCV001894758 RCV004009230 RCV005772248

NM_000551.4(VHL):c.574C>A (p.Pro192Thr)

SNV
Germline

Chr3:10149897

Conflicting classifications of pathogenicity

Chuvash polycythemia
Von Hippel-Lindau syndrome
Chuvash polycythemia

Criteria Provided
Conflicting Classifications

CA351756433

rs_28940300

2 SubmittersRCV001988653 RCV003464363

NM_000551.4(VHL):c.158A>G (p.Glu53Gly)

SNV
Germline

Chr3:10142005

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA351748429

rs_2125124854

2 SubmittersRCV001886409 RCV005298913

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

SNV
Germline

Chr3:10149798

Pathogenic

Chuvash polycythemia
Von Hippel-Lindau syndrome
Von Hippel-Lindau syndrome
VHL-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA351756080

rs_1575932011

3 SubmittersRCV002007406 RCV003329425 RCV004728985

NM_000551.4(VHL):c.340+630C>T

SNV
Germline

Chr3:10142817

Conflicting classifications of pathogenicity

Chuvash polycythemia
Von Hippel-Lindau syndrome
not specified

Criteria Provided
Conflicting Classifications

CA2573136101

rs_2125125896

2 SubmittersRCV001995759 RCV004596504

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

SNV
Germline

Chr3:10149876

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA041587

rs_768390987

4 SubmittersRCV001905552 RCV003470996 RCV004785360 RCV005038435

NM_000551.4(VHL):c.67T>G (p.Tyr23Asp)

SNV
Germline

Chr3:10141914

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA351747388

rs_1696118253

3 SubmittersRCV002001124 RCV005032064 RCV004946996

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

SNV
Germline

Chr3:10146503

Pathogenic

Chuvash polycythemia
Von Hippel-Lindau syndrome

Criteria Provided
Single Submitter

CA645524868

rs_2125128187

1 SubmittersRCV001956145

NM_000551.4(VHL):c.148G>A (p.Ala50Thr)

SNV
Germline

Chr3:10141995

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA351748226

rs_1696124466

2 SubmittersRCV001961707 RCV004946953

NM_000551.4(VHL):c.513G>C (p.Lys171Asn)

SNV
Germline

Chr3:10149836

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA351756203

rs_1365445365

4 SubmittersRCV001896326 RCV003303309 RCV004571553 RCV004804285

NM_000551.4(VHL):c.131G>T (p.Gly44Val)

SNV
Germline

Chr3:10141978

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA351748065

rs_1056226386

2 SubmittersRCV001882271 RCV004041460

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

SNV
Germline

Chr3:10142155

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA351751083

rs_2125125299

2 SubmittersRCV002324453 RCV001988554

NM_000551.4(VHL):c.589G>A (p.Asp197Asn)

SNV
Germline

Chr3:10149912

Likely pathogenic

Von Hippel-Lindau syndrome

Criteria Provided
Single Submitter

CA351756524

rs_1064794951

1 SubmittersRCV002251697

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

SNV
Germline

Chr3:10141847

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1044994608

rs_1165233721

3 SubmittersRCV002292084 RCV002416559 RCV004005595

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

SNV
Germline

Chr3:10146561

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA351753916

rs_104893830

3 SubmittersRCV002357396 RCV003102470 RCV005232954

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

SNV
Germline

Chr3:10146579

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA351754039

rs_1696264108

2 SubmittersRCV002321463 RCV003775806

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

SNV
Germline

Chr3:10142182

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA351751356

rs_869025633

2 SubmittersRCV002321045 RCV005213662

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

SNV
Germline

Chr3:10146640

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Von Hippel-Lindau syndrome

Criteria Provided
Conflicting Classifications

CA1139768329

rs_879253989

2 SubmittersRCV002330407 RCV005601897

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

SNV
Germline

Chr3:10149810

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA351756131

rs_1553620318

3 SubmittersRCV002340459 RCV003775986 RCV006554654

NM_000551.4(VHL):c.584A>G (p.Gln195Arg)

SNV
Germline

Chr3:10149907

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA351756496

rs_2470171278

2 SubmittersRCV002353321 RCV003103239

NM_000551.4(VHL):c.201C>G (p.Asn67Lys)

SNV
Germline

Chr3:10142048

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA039757

rs_769658318

3 SubmittersRCV002417451 RCV003101012 RCV006553305

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

SNV
Germline

Chr3:10141847

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Von Hippel-Lindau syndrome

Criteria Provided
Conflicting Classifications

CA541213516

rs_1165233721

2 SubmittersRCV002417119 RCV005621196

NM_000551.4(VHL):c.302T>G (p.Leu101Arg)

SNV
Germline

Chr3:10142149

Likely pathogenic

Hereditary cancer-predisposing syndrome
Von Hippel-Lindau syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA351751004

rs_1553619456

2 SubmittersRCV002435999 RCV003455513

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

SNV
Germline

Chr3:10142023

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA351748662

rs_1696126408

2 SubmittersRCV003092741 RCV004948980

NM_000551.4(VHL):c.633G>A (p.Met211Ile)

SNV
Germline

Chr3:10149956

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA351756701

rs_2125130877

3 SubmittersRCV002619566 RCV006292321 RCV006546379

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

SNV
Germline

Chr3:10146534

Pathogenic

Chuvash polycythemia
Von Hippel-Lindau syndrome

Criteria Provided
Single Submitter

CA351753750

rs_2125128261

1 SubmittersRCV002651639

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

SNV
Germline

Chr3:10149787

Likely pathogenic

Chuvash polycythemia
Von Hippel-Lindau syndrome

Criteria Provided
Single Submitter

CA16621938

rs_2125130449

1 SubmittersRCV002651640

NM_000551.4(VHL):c.259G>A (p.Val87Ile)

SNV
Germline

Chr3:10142106

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA351750641

rs_2125125165

2 SubmittersRCV003112096 RCV003162152

NM_000551.4(VHL):c.231C>A (p.Cys77Ter)

SNV
Germline

Chr3:10142078

Pathogenic

Chuvash polycythemia
Von Hippel-Lindau syndrome

Criteria Provided
Single Submitter

CA351749279

rs_2125125069

1 SubmittersRCV002863461

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

SNV
Germline

Chr3:10146512

Pathogenic

Chuvash polycythemia
Von Hippel-Lindau syndrome
Von Hippel-Lindau syndrome
Clear cell carcinoma of kidney

Criteria Provided
Multiple Submitters
No Conflicts

CA351753586

rs_869025637

3 SubmittersRCV002877178 RCV003455591 RCV005928672

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

SNV
Germline

Chr3:10142008

Likely pathogenic

Chuvash polycythemia
Von Hippel-Lindau syndrome

Criteria Provided
Single Submitter

CA351748469

rs_1575921544

1 SubmittersRCV002908478

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

SNV
Germline

Chr3:10146522

Pathogenic

Von Hippel-Lindau syndrome
Chuvash polycythemia

Criteria Provided
Single Submitter

CA351753660

rs_1696261074

1 SubmittersRCV003017971

NM_000551.4(VHL):c.503G>A (p.Ser168Asn)

SNV
Germline

Chr3:10149826

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA351756182

rs_2125130551

4 SubmittersRCV003017988 RCV003465888 RCV005288874 RCV003317638

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

SNV
Germline

Chr3:10142035

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA351748749

rs_104893827

3 SubmittersRCV003300745 RCV005216033 RCV006460575

NM_000551.4(VHL):c.*9G>C

SNV
Germline

Chr3:10149974

Conflicting classifications of pathogenicity

Condition: not provided
Von Hippel-Lindau syndrome

Criteria Provided
Conflicting Classifications

CA042135

rs_764358108

2 SubmittersRCV003332732 RCV005621245

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

SNV
Germline

Chr3:10142139

Pathogenic

Von Hippel-Lindau syndrome

Criteria Provided
Single Submitter

CA351750883

rs_5030809

1 SubmittersRCV003388486

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

SNV
Unknown

Chr3:10142178

Pathogenic

Von Hippel-Lindau syndrome

Criteria Provided
Single Submitter

CA351751320

rs_1559426203

1 SubmittersRCV003450556

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

SNV
Unknown

Chr3:10146513

Pathogenic

Von Hippel-Lindau syndrome
Clear cell carcinoma of kidney

Criteria Provided
Single Submitter

CA351753597

rs_1575927648

2 SubmittersRCV003452624 RCV005927708

NM_000551.4(VHL):c.202T>C (p.Ser68Pro)

SNV
Germline

Chr3:10142049

Pathogenic

Chuvash polycythemia
Von Hippel-Lindau syndrome

Criteria Provided
Single Submitter

CA16621912

rs_2470158062

1 SubmittersRCV003780996

NM_000551.4(VHL):c.350G>C (p.Trp117Ser)

SNV
Germline

Chr3:10146523

Likely pathogenic

Chuvash polycythemia
Von Hippel-Lindau syndrome

Criteria Provided
Single Submitter

CA351753671

rs_1559428056

1 SubmittersRCV003780998

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

SNV
Germline

Chr3:10149785

Pathogenic

Chuvash polycythemia
Von Hippel-Lindau syndrome

Criteria Provided
Single Submitter

CA351756024

rs_5030816

1 SubmittersRCV003781000

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

SNV
Germline

Chr3:10149878

Pathogenic

Chuvash polycythemia
Von Hippel-Lindau syndrome

Criteria Provided
Single Submitter

CA351756378

rs_864622109

1 SubmittersRCV003781002

NM_000551.4(VHL):c.341G>T (p.Gly114Val)

SNV
Germline

Chr3:10146514

Likely pathogenic

Chuvash polycythemia
Von Hippel-Lindau syndrome

Criteria Provided
Single Submitter

CA351753604

rs_1559428039

1 SubmittersRCV003781367

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

SNV
Germline

Chr3:10142166

Pathogenic

Chuvash polycythemia
Von Hippel-Lindau syndrome

Criteria Provided
Single Submitter

CA351751190

rs_397516440

1 SubmittersRCV003805279

NM_000551.4(VHL):c.340+2T>G

SNV
Germline

Chr3:10142189

Pathogenic

Chuvash polycythemia
Von Hippel-Lindau syndrome

Criteria Provided
Single Submitter

CA351751384

rs_1407805768

1 SubmittersRCV003800681

NM_000551.4(VHL):c.162G>A (p.Met54Ile)

SNV
Germline

Chr3:10142009

Likely pathogenic

Chuvash polycythemia
Von Hippel-Lindau syndrome

Criteria Provided
Single Submitter

CA351748478

rs_2125124863

1 SubmittersRCV003801970

NM_000551.4(VHL):c.220G>T (p.Val74Phe)

SNV
Germline

Chr3:10142067

Likely pathogenic

Von Hippel-Lindau syndrome
Chuvash polycythemia

Criteria Provided
Single Submitter

CA351749164

rs_2125125032

1 SubmittersRCV003813709

NM_000551.4(VHL):c.118C>A (p.Pro40Thr)

SNV
Germline

Chr3:10141965

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA039380

rs_776399733

2 SubmittersRCV003809633 RCV006292474

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

SNV
Germline

Chr3:10149963

Likely pathogenic

Von Hippel-Lindau syndrome
Chuvash polycythemia

Criteria Provided
Single Submitter

CA351756719

rs_1575932781

1 SubmittersRCV003815631

NM_000551.4(VHL):c.460C>A (p.Pro154Thr)

SNV
Germline

Chr3:10146633

Likely pathogenic

Chuvash polycythemia
Von Hippel-Lindau syndrome

Criteria Provided
Single Submitter

CA351754401

rs_1553619993

1 SubmittersRCV003807570

NM_000551.4(VHL):c.-13G>C

SNV
Germline

Chr3:10141835

Conflicting classifications of pathogenicity

Von Hippel-Lindau syndrome

Criteria Provided
Conflicting Classifications

CA541213511

rs_1057522448

2 SubmittersRCV004012598

NM_000551.4(VHL):c.240T>A (p.Ser80Arg)

SNV
Germline

Chr3:10142087

Likely pathogenic

Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA351750519

rs_1553619424

3 SubmittersRCV004440400 RCV004440401

NM_000551.4(VHL):c.11G>A (p.Arg4Lys)

SNV
Germline

Chr3:10141858

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Von Hippel-Lindau syndrome

Criteria Provided
Conflicting Classifications

CA351747022

rs_886057703

2 SubmittersRCV004520895 RCV006551186

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

SNV
Germline

Chr3:10141848

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

2 SubmittersRCV004790184 RCV006565344

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

SNV
Germline

Chr3:10141838

Conflicting classifications of pathogenicity

Von Hippel-Lindau syndrome

Criteria Provided
Conflicting Classifications

3 SubmittersRCV004802869

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

SNV
Germline

Chr3:10149920

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

2 SubmittersRCV004950916 RCV005218380

NM_000551.4(VHL):c.310G>C (p.Gly104Arg)

SNV
Germline

Chr3:10142157

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005031012 RCV006564274

NM_000551.4(VHL):c.262T>G (p.Trp88Gly)

SNV
Germline

Chr3:10142109

Conflicting classifications of pathogenicity

Condition: not provided
Von Hippel-Lindau syndrome
Chuvash polycythemia

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005052748 RCV006564329

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

SNV
Germline

Chr3:10146512

Pathogenic

Chuvash polycythemia
Von Hippel-Lindau syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005228506

NM_000551.4(VHL):c.523T>A (p.Tyr175Asn)

SNV
Germline

Chr3:10149846

Likely pathogenic

Chuvash polycythemia
Von Hippel-Lindau syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005228510

NM_000551.4(VHL):c.295C>T (p.Pro99Ser)

SNV
Germline

Chr3:10142142

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005212007 RCV005303531

NM_000551.4(VHL):c.368G>T (p.Gly123Val)

SNV
Germline

Chr3:10146541

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005212008 RCV005774765

NM_000551.4(VHL):c.485G>C (p.Cys162Ser)

SNV
Germline

Chr3:10149808

Likely pathogenic

Chuvash polycythemia
Von Hippel-Lindau syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005212009

NM_000551.4(VHL):c.599G>C (p.Arg200Pro)

SNV
Germline

Chr3:10149922

Likely pathogenic

Chuvash polycythemia
Von Hippel-Lindau syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005212011

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

SNV
Germline

Chr3:10150035

Likely pathogenic

Von Hippel-Lindau syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005358555

NM_000551.4(VHL):c.58G>A (p.Val20Ile)

SNV
Germline

Chr3:10141905

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005296816 RCV006567306

NM_000551.4(VHL):c.637G>T (p.Asp213Tyr)

SNV
Germline

Chr3:10149960

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005519194 RCV006568192

NM_000551.4(VHL):c.398C>A (p.Thr133Asn)

SNV
Germline

Chr3:10146571

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005519205 RCV006568193

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

SNV
Germline

Chr3:10146511

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

3 SubmittersRCV005621528 RCV005860495 RCV006568373

NM_000551.4(VHL):c.359G>A (p.Arg120Lys)

SNV
Germline

Chr3:10146532

Likely pathogenic

Von Hippel-Lindau syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005861944

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

SNV
Germline

Chr3:10142188

Pathogenic

Von Hippel-Lindau syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV006272241

NM_000551.4(VHL):c.241C>A (p.Pro81Thr)

SNV
Germline

Chr3:10142088

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

2 SubmittersRCV006296029 RCV006569433

NM_000551.4(VHL):c.226T>G (p.Phe76Val)

SNV
Germline

Chr3:10142073

Likely pathogenic

Chuvash polycythemia
Von Hippel-Lindau syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV006599764

NM_000551.4(VHL):c.526A>T (p.Arg176Trp)

SNV
Germline

Chr3:10149849

Pathogenic

Chuvash polycythemia
Von Hippel-Lindau syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV006599765

NM_000551.4(VHL):c.467A>C (p.Tyr156Ser)

SNV
Germline

Chr3:10149790

Pathogenic

Chuvash polycythemia
Von Hippel-Lindau syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV006595788