MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

MSeqDR Mitochondrial Disease Portal

*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO

Disease Browser
Parent Node: Angiomatosis (D000798)
Parent Node: Ciliopathies (D000072661)
Parent Node: Neurocutaneous Syndromes (D020752)
..Starting node ..von Hippel-Lindau Disease (D006623)
Child Nodes:
Sister Nodes:
..Angioma hereditary neurocutaneous (C536364)
..Ataxia Telangiectasia (D001260) 6
..Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome (C537943)
..Elejalde Disease (C536203)
..Encephalocraniocutaneous lipomatosis (C535736)
..Gomez Lopez Hernandez syndrome (C537285)
..Johnson neuroectodermal syndrome (C535882)
..Neurocutaneous melanosis (C537387)
..Neurofibromatoses (D017253) 13 C:1
..Nevus, Sebaceous of Jadassohn (D054000) 1
..PHACE association (C537892)
..Phacomatosis pigmentovascularis (C537894)
..Sturge-Weber Syndrome (D013341) 1
..Tuberous Sclerosis (D014402) 4
..von Hippel-Lindau Disease (D006623)
..Wyburn Mason's syndrome (C536752)
..Zunich neuroectodermal syndrome (C536729)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

12754

Name:

von Hippel-Lindau Disease

Definition:

An autosomal dominant disorder caused by mutations in a tumor suppressor gene. This syndrome is characterized by abnormal growth of small blood vessels leading to a host of neoplasms. They include HEMANGIOBLASTOMA in the RETINA; CEREBELLUM; and SPINAL CORD; PHEOCHROMOCYTOMA; pancreatic tumors; and renal cell carcinoma (see CARCINOMA, RENAL CELL). Common clinical signs include HYPERTENSION and neurological dysfunctions.

Alternative IDs:

DO:DOID:14175|OMIM:193300

ParentIDs:

MESH:D000072661|MESH:D000798|MESH:D020752

TreeNumbers:

C10.562.925 |C14.907.077.925 |C16.131.077.245.750 |C16.320.184.750

Synonyms:

Slim Mappings:

Cardiovascular disease|Congenital abnormality|Genetic disease (inborn)|Nervous system disease

Reference:

MedGen: D006623
MeSH: D006623
OMIM: 193300;
MSeqDR :
Genes: CCND1; VHL;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0001392	Abnormality of the liver NAMDC: Hepatic
3	HP:0006880	Cerebellar hemangioblastoma
4	HP:0030424	Epididymal cyst
5	HP:0000822	Hypertension
6	HP:0005562	Multiple renal cysts
7	HP:0002894	Neoplasm of the pancreas
8	HP:0001737	Pancreatic cysts
9	HP:0009715	Papillary cystadenoma of the epididymis
10	HP:0002668	Paraganglioma
11	HP:0003812	Phenotypic variability
12	HP:0002666	Pheochromocytoma
13	HP:0001901	Polycythemia
14	HP:0005954	Pulmonary capillary hemangiomatosis
15	HP:0005584	Renal cell carcinoma
16	HP:0009711	Retinal capillary hemangioma
17	HP:0000407	Sensorineural hearing impairment NAMDC: Sensorineural hearing loss
18	HP:0009713	Spinal hemangioblastoma
19	HP:0000360	Tinnitus
20	HP:0002321	Vertigo

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NC_000003.12:g.(?_10052377)_(10149975_?)del	7428	VHL	Pathogenic	-1	RCV000823975;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10094061	10191659		-
NC_000003.11:g.(?_10094061)_(10191659_?)dup	7428	VHL	Uncertain significance	-1	RCV000810679;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10094061	10191659		-
NC_000003.12:g.(?_10052377)_(10150035_?)del	7428	VHL	Pathogenic	-1	RCV001033667;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10094061	10191719	-1	-
NC_000003.12:g.(?_10052377)_(10150035_?)dup	7428	VHL	Uncertain significance	-1	RCV001033793;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10094061	10191719	-1	-
NC_000003.11:g.10094065-?_10191654+?del	7428	VHL	Pathogenic	-1	RCV001380375;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10094065	10094065	-1	-
NC_000003.11:g.(?_10103825)_(10184708_?)dup	7428	VHL	Uncertain significance	-1	RCV001308056;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10103825	10184708	-1	-
NC_000003.11:g.(?_10106403)_(10191659_?)dup	7428	VHL	Uncertain significance	-1	RCV000708325;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10106403	10191659		-	C1837915 263400 Erythrocytosis, familial, 2;
NC_000003.12:g.(?_10064719)_(10150035_?)dup	7428	VHL	Uncertain significance	-1	RCV001032163;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10106403	10191719	-1	-
NC_000003.11:g.10106407-?_10191654+?del	7428	VHL	Pathogenic	-1	RCV001382028;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10106407	10106407	-1	-
NC_000003.12:g.(?_10072861)_(10150035_?)del	7428	VHL	Pathogenic	-1	RCV001033494;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10114545	10191719	-1	-
NC_000003.11:g.10160443_10184298del	7428	VHL	Pathogenic	-1	RCV001293276;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10160443	10184298	-1	-
NC_000003.11:g.10167511_10193484del	7428	VHL	Pathogenic	-1	RCV001293277;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10167511	10193484	-1	-
NC_000003.11:g.10169230_10194915del	7428	VHL	Pathogenic	-1	RCV001293293;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10169230	10194915	-1	-
NC_000003.11:g.10170715_10188894del	7428	VHL	Pathogenic	-1	RCV001293294;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10170715	10188894	-1	-
NC_000003.11:g.10175778_10190168del	7428	VHL	Pathogenic	-1	RCV001293295;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10175778	10190168	-1	-
NC_000003.11:g.10175844_10187969del	7428	VHL	Pathogenic	-1	RCV001293296;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10175844	10187969	-1	-
NC_000003.12:g.10135142_10142466del	7428	VHL	Pathogenic	-1	RCV001293298;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10176798	10184122		-
NC_000003.12:g.10135142_10143568del	7428	VHL	Pathogenic	-1	RCV001293297;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10176799	10185225		-
NC_000003.12:g.10137026_10145481del	7428	VHL	Pathogenic	-1	RCV001293299;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10178706	10187161		-
NC_000003.12:g.10137102_10143357del	7428	VHL	Pathogenic	-1	RCV001293300;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10178786	10185041		-
NC_000003.11:g.10179846_10190051del	7428	VHL	Pathogenic	-1	RCV001293301;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10179846	10190051	-1	-
NC_000003.11:g.10180085_10190286del	7428	VHL	Pathogenic	-1	RCV001293302;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10180085	10190286	-1	-
NC_000003.12:g.10139220_10148953del	7428	VHL	Pathogenic	-1	RCV001293303;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10180892	10190625		-
NC_000003.12:g.10139708_10142406del	7428	VHL	Pathogenic	-1	RCV001293304;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10181370	10184068		-
NC_000003.12:g.10139761_10142459del	7428	VHL	Pathogenic	-1	RCV001293305;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10181438	10184136		-
NC_000003.12:g.10140148_10140759del	7428	VHL	Pathogenic	1696067154	RCV001293325;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10181832	10182443		-
NC_000003.11:g.10182212_10212738del	7428	VHL	Pathogenic	-1	RCV001293306;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10182212	10212738	-1	-
NC_000003.12:g.10140648_10148414del	7428	VHL	Pathogenic	-1	RCV001293307;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10182314	10190080		-
NC_000003.12:g.10140738_10142535del	7428	VHL	Pathogenic	-1	RCV001293311;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10182405	10184202		-
NC_000003.12:g.10141523_10142610del	7428	VHL	Pathogenic	-1	RCV001293312;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183204	10184291		-
NC_000003.12:g.(?_10141635)_(10142187_?)del	7428	VHL	Pathogenic	-1	RCV000465963;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10183319	10183871		-	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.3(VHL):c.-207C>T	7428	VHL	Uncertain significance	886057698	RCV000363267\|RCV002504149;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0007763,MedGen:CN074294,OMIM:144700, Orphanet:422526; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0009892,MedGen:C1	3	10183325	10183325	3:g.10183325C>T	ClinGen:CA10616659	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.3(VHL):c.-195G>A	7428	VHL	Benign	779805	RCV000269168\|RCV001513670\|RCV001712075;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MedGen:C3661900	3	10183337	10183337	3:g.10183337G>A	ClinGen:CA10616661	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.3(VHL):c.-188G>A	7428	VHL	Uncertain significance	966586600	RCV001145766\|RCV001819850;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MedGen:CN169374	3	10183344	10183344	3:g.10183344G>A	-
NM_000551.3(VHL):c.-179G>A	7428	VHL	Uncertain significance	1466966053	RCV001145767;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183353	10183353	3:g.10183353G>A	-
NM_000551.3(VHL):c.-166C>T	7428	VHL	Uncertain significance	886057699	RCV000328871;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183366	10183366	3:g.10183366C>T	ClinGen:CA10614817	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.3(VHL):c.-125C>A	7428	VHL	Uncertain significance	886057700	RCV000364841;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183407	10183407	3:g.10183407C>A	ClinGen:CA10614383	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.3(VHL):c.-118C>T	7428	VHL	Uncertain significance	1696106670	RCV001148528;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183414	10183414	3:g.10183414C>T	-
NM_000551.3(VHL):c.-97T>G	7428	VHL	Conflicting interpretations of pathogenicity	34271731	RCV000679016\|RCV001816688\|RCV002060844\|RCV002256463;	N	MedGen:C3661900\|MedGen:CN169374\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10183435	10183435	NC_000003.11:g.10183435T>G	-	CN517202 not provided;
NM_000551.3(VHL):c.-77_-32del	7428	VHL	Uncertain significance	1553619239	RCV000504180;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183454	10183499	3:g.10183454_10183499del	ClinGen:CA645372717	CN517202 not provided;
NM_000551.3(VHL):c.-77C>T	7428	VHL	Benign/Likely benign	3087462	RCV000252126\|RCV000274855\|RCV001711659;	N	MedGen:CN169374\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MedGen:C3661900	3	10183455	10183455	3:g.10183455C>T	ClinGen:CA10586842	CN169374 not specified;
NM_000551.3(VHL):c.-75_-55del	7428	VHL	Likely pathogenic	727503744	RCV000152657;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183457	10183477	3:g.10183454_10183474del	ClinGen:CA020542	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.3(VHL):c.-73C>T	7428	VHL	Conflicting interpretations of pathogenicity	1034934219	RCV000764456\|RCV001148529\|RCV001796976;	N	MONDO:MONDO:0007763,MedGen:CN074294,OMIM:144700, Orphanet:422526; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1	3	10183459	10183459	NC_000003.11:g.10183459C>T	-	CN517202 not provided;
NM_000551.4(VHL):c.-61_-51dup	7428	VHL	Conflicting interpretations of pathogenicity	727503743	RCV000152655\|RCV000679012\|RCV001424163\|RCV002255477\|RCV003389724;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|	3	10183466	10183467	NC_000003.11:g.10183471_10183481dup	ClinGen:CA179625	CN517202 not provided;
NM_000551.4(VHL):c.-64C>T	7428	VHL	Conflicting interpretations of pathogenicity	772944298	RCV000330011\|RCV000679013\|RCV002057820\|RCV002256218;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MedGen:C3661900\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Or	3	10183468	10183468	3:g.10183468C>T	ClinGen:CA10614384	CN517202 not provided;
NM_000551.4(VHL):c.-35G>A	7428	VHL	Conflicting interpretations of pathogenicity	587780992	RCV000126299\|RCV000679009\|RCV001148530;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183497	10183497	3:g.10183497G>A	ClinGen:CA020304	CN517202 not provided;
NM_000551.4(VHL):c.-30C>T	7428	VHL	Uncertain significance	886057701	RCV000389113;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183502	10183502	3:g.10183502C>T	ClinGen:CA10616663	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.-26C>T	7428	VHL	Uncertain significance	775446934	RCV001148531;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183506	10183506	3:g.10183506C>T	-
NC_000003.12:g.(?_10141828)_(10146656_?)del	7428	VHL	Pathogenic	-1	RCV001031134;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10183512	10188340	-1	-
NM_000551.4(VHL):c.-9_5dup (p.Ala5fs)	7428	VHL	Uncertain significance	730882038	RCV000161097\|RCV001812139\|RCV002485005;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:	3	10183521	10183522	NC_000003.11:g.10183523_10183536dup	ClinGen:CA020491	C0027672 Hereditary cancer-predisposing syndrome;
NM_000551.4(VHL):c.-10C>T	7428	VHL	Likely benign	1192379474	RCV000609650\|RCV002498924;	N	MedGen:CN169374\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0007763,MedGen:CN074294,OMIM:144700, Orphanet:422526; MONDO:MONDO:0	3	10183522	10183522	3:g.10183522C>T	ClinGen:CA541213514	CN169374 not specified;
NC_000003.12:g.(?_10141838)_(10142197_?)del	7428	VHL	Pathogenic	-1	RCV000813342;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183522	10183881		-
NC_000003.12:g.(?_10141838)_(10149975_?)del	7428	VHL	Pathogenic	-1	RCV000793474;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10183522	10191659		-
NC_000003.11:g.(?_10183522)_(10188330_?)dup	7428	VHL	Uncertain significance	-1	RCV001364794;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183522	10188330	-1	-
NC_000003.11:g.(?_10183526)_(10191655_?)dup	7428	VHL	Uncertain significance	-1	RCV000708240;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183526	10191655		-	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.-5A>C	7428	VHL	Conflicting interpretations of pathogenicity	35793832	RCV000566000\|RCV000679011\|RCV001818360\|RCV002053943;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MedGen:CN169374\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183527	10183527	NC_000003.11:g.10183527A>C	ClinGen:CA020514	C0027672 Hereditary cancer-predisposing syndrome;
NM_000551.4(VHL):c.1A>T (p.Met1Leu)	7428	VHL	Conflicting interpretations of pathogenicity	1060503557	RCV000458939\|RCV000579235\|RCV000663055\|RCV002418424;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MedGen:C3661900\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Or	3	10183532	10183532	NC_000003.11:g.10183532A>T	ClinGen:CA16611052	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.1A>G (p.Met1Val)	7428	VHL	Conflicting interpretations of pathogenicity	1060503557	RCV000662755\|RCV001230391\|RCV001784228\|RCV002422448;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Or	3	10183532	10183532	3:g.10183532A>G	-	C0019562 193300 Von Hippel-Lindau syndrome;
NC_000003.12:g.(?_10141848)_(10142197_?)del	7428	VHL	Pathogenic	-1	RCV001033654;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183532	10183881	-1	-
NC_000003.12:g.(?_10141848)_(10142197_?)dup	7428	VHL	Uncertain significance	-1	RCV001031436;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10183532	10183881	-1	-
NC_000003.12:g.(?_10141848)_(10143024_?)del	7428	VHL	Pathogenic	-1	RCV001031114;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183532	10184708	-1	-
NC_000003.12:g.(?_10141848)_(10150035_?)dup	7428	VHL	Uncertain significance	-1	RCV001032043;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183532	10191719	-1	-
NC_000003.11:g.(?_10183532)_(10188330_?)del	7428	VHL	Pathogenic	-1	RCV001386426;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183532	10188330	-1	-
NC_000003.11:g.(?_10183532)_(10188330_?)dup	7428	VHL	Uncertain significance	-1	RCV003105254;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10183532	10188330		-
NM_000551.4(VHL):c.2T>A (p.Met1Lys)	7428	VHL	Uncertain significance	-1	RCV003049076;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10183533	10183533	NC_000003.11:g.10183533T>A	-
NM_000551.4(VHL):c.3G>A (p.Met1Ile)	7428	VHL	Conflicting interpretations of pathogenicity	578091032	RCV000122260\|RCV000409700\|RCV000467198\|RCV000492595\|RCV000657025\|RCV002483231;	N	MedGen:CN169374\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Or	3	10183534	10183534	3:g.10183534G>A	ClinGen:CA020331	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.3G>T (p.Met1Ile)	7428	VHL	Conflicting interpretations of pathogenicity	578091032	RCV000228663\|RCV000236708\|RCV000411808\|RCV000562501\|RCV002307459\|RCV002487052;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MedGen:C3661900\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Or	3	10183534	10183534	3:g.10183534G>T	ClinGen:CA040825	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.3G>C (p.Met1Ile)	7428	VHL	Uncertain significance	578091032	RCV000707210\|RCV002369974;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10183534	10183534	3:g.10183534G>C	-	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.4C>T (p.Pro2Ser)	7428	VHL	Uncertain significance	1034974221	RCV000696229\|RCV000997984\|RCV002334321;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10183535	10183535	3:g.10183535C>T	-	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.4C>G (p.Pro2Ala)	7428	VHL	Uncertain significance	1034974221	RCV001023393\|RCV002551875;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183535	10183535	3:g.10183535C>G	-
NM_000551.4(VHL):c.5C>T (p.Pro2Leu)	7428	VHL	Conflicting interpretations of pathogenicity	111246617	RCV000161089\|RCV000168429\|RCV000294881\|RCV000492422\|RCV000781920\|RCV003416030;	N	MedGen:C3661900\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Or	3	10183536	10183536	NC_000003.11:g.10183536C>T	ClinGen:CA020518	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.5C>G (p.Pro2Arg)	7428	VHL	Uncertain significance	111246617	RCV000460146\|RCV002256271;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10183536	10183536	NC_000003.11:g.10183536C>G	ClinGen:CA16611054	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.5C>A (p.Pro2His)	7428	VHL	Uncertain significance	-1	RCV002880327\|RCV003167844;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10183536	10183536	NC_000003.11:g.10183536C>A	-
NM_000551.4(VHL):c.6C>G (p.Pro2=)	7428	VHL	Likely benign	1014417508	RCV000525157;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183537	10183537	3:g.10183537C>G	ClinGen:CA432536118	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.6C>T (p.Pro2=)	7428	VHL	Conflicting interpretations of pathogenicity	1014417508	RCV000937631\|RCV001395391\|RCV002363426;	N	MedGen:C3661900\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10183537	10183537	3:g.10183537C>T	-
NM_000551.4(VHL):c.7C>T (p.Arg3Trp)	7428	VHL	Uncertain significance	878854130	RCV000226904\|RCV002418000\|RCV003226914;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	3	10183538	10183538	3:g.10183538C>T	ClinGen:CA10582110	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.7C>G (p.Arg3Gly)	7428	VHL	Uncertain significance	878854130	RCV001338748\|RCV002418995;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10183538	10183538	10183538	-
NM_000551.4(VHL):c.8G>C (p.Arg3Pro)	7428	VHL	Uncertain significance	1178481595	RCV000698072\|RCV002257940\|RCV003223669;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	3	10183539	10183539	NC_000003.11:g.10183539G>C	-	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.8G>A (p.Arg3Gln)	7428	VHL	Uncertain significance	1178481595	RCV001901781\|RCV002370494;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10183539	10183539	10183539	-
NM_000551.4(VHL):c.9G>T (p.Arg3=)	7428	VHL	Likely benign	1696113334	RCV001427630;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10183540	10183540	10183540	-
NM_000551.4(VHL):c.10A>T (p.Arg4Trp)	7428	VHL	Uncertain significance	886057702	RCV000316395;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183541	10183541	3:g.10183541A>T	ClinGen:CA10614386	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.10_11delinsTT (p.Arg4Leu)	7428	VHL	Uncertain significance	1575920840	RCV001009648\|RCV001860608;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10183541	10183542	NC_000003.11:g.10183541_10183542delinsTT	-
NM_000551.4(VHL):c.10A>G (p.Arg4Gly)	7428	VHL	Uncertain significance	886057702	RCV001976403;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183541	10183541	10183541	-
NM_000551.4(VHL):c.11G>T (p.Arg4Met)	7428	VHL	Uncertain significance	886057703	RCV000375604\|RCV001350502\|RCV003168519;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10183542	10183542	3:g.10183542G>T	ClinGen:CA10616745	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.12G>A (p.Arg4=)	7428	VHL	Likely benign	1553619274	RCV000551863\|RCV002384044;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10183543	10183543	NC_000003.11:g.10183543G>A	ClinGen:CA432536137	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.13G>C (p.Ala5Pro)	7428	VHL	Uncertain significance	1559425498	RCV000685222;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183544	10183544	NC_000003.11:g.10183544G>C	-	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.13G>T (p.Ala5Ser)	7428	VHL	Uncertain significance	1559425498	RCV002046234\|RCV002391137;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10183544	10183544	10183544	-
NM_000551.4(VHL):c.14C>T (p.Ala5Val)	7428	VHL	Uncertain significance	755333116	RCV000195431\|RCV000409910\|RCV000492641\|RCV001582695\|RCV003462330;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Me	3	10183545	10183545	NC_000003.11:g.10183545C>T	ClinGen:CA039495	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.15G>A (p.Ala5=)	7428	VHL	Likely benign	1355874307	RCV001474833\|RCV002405120;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10183546	10183546	10183546	-
NM_000551.4(VHL):c.16G>T (p.Glu6Ter)	7428	VHL	Uncertain significance	545406510	RCV001369118;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183547	10183547	10183547	-
NM_000551.4(VHL):c.16G>C (p.Glu6Gln)	7428	VHL	Uncertain significance	-1	RCV002585053;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10183547	10183547	NC_000003.11:g.10183547G>C	-
NM_000551.4(VHL):c.17A>C (p.Glu6Ala)	7428	VHL	Uncertain significance	1696114029	RCV001071455;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183548	10183548	3:g.10183548A>C	-
NM_000551.4(VHL):c.18G>T (p.Glu6Asp)	7428	VHL	Uncertain significance	1004620245	RCV000459599\|RCV002411515;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10183549	10183549	NC_000003.11:g.10183549G>T	ClinGen:CA16611153	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.18G>A (p.Glu6=)	7428	VHL	Likely benign	1004620245	RCV001499931;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10183549	10183549	10183549	-
NM_000551.4(VHL):c.22_27dup (p.Trp8_Asp9dup)	7428	VHL	Uncertain significance	1696114336	RCV001338153;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10183550	10183551	10183550	-
NM_000551.4(VHL):c.20A>C (p.Asn7Thr)	7428	VHL	Uncertain significance	1575920892	RCV000812261;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10183551	10183551	3:g.10183551A>C	-
NM_000551.4(VHL):c.20A>T (p.Asn7Ile)	7428	VHL	Uncertain significance	1575920892	RCV001046537;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183551	10183551	3:g.10183551A>T	-
NM_000551.4(VHL):c.20A>G (p.Asn7Ser)	7428	VHL	Uncertain significance	1575920892	RCV001298878\|RCV002418901;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10183551	10183551	10183551	-
NM_000551.4(VHL):c.21C>A (p.Asn7Lys)	7428	VHL	Uncertain significance	1060503561	RCV000462197\|RCV000574549\|RCV001356021;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	3	10183552	10183552	NC_000003.11:g.10183552C>A	ClinGen:CA16611156	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.21C>T (p.Asn7=)	7428	VHL	Likely benign	1060503561	RCV000610976\|RCV000917891\|RCV002431801;	N	MedGen:CN169374\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10183552	10183552	3:g.10183552C>T	ClinGen:CA432536148	CN169374 not specified;
NM_000551.4(VHL):c.21C>G (p.Asn7Lys)	7428	VHL	Uncertain significance	1060503561	RCV001053669;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183552	10183552	3:g.10183552C>G	-
NM_000551.4(VHL):c.22T>C (p.Trp8Arg)	7428	VHL	Uncertain significance	1352171735	RCV000559388;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183553	10183553	NC_000003.11:g.10183553T>C	ClinGen:CA351747057	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.22T>G (p.Trp8Gly)	7428	VHL	Uncertain significance	1352171735	RCV002042393\|RCV003230725;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MedGen:CN169374	3	10183553	10183553	10183553	-
NM_000551.4(VHL):c.23G>A (p.Trp8Ter)	7428	VHL	Uncertain significance	1060503551	RCV000458561;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10183554	10183554	NC_000003.11:g.10183554G>A	ClinGen:CA16611056	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.23G>T (p.Trp8Leu)	7428	VHL	Uncertain significance	1060503551	RCV001205122;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10183554	10183554	3:g.10183554G>T	-
NM_000551.4(VHL):c.25G>A (p.Asp9Asn)	7428	VHL	Conflicting interpretations of pathogenicity	587780730	RCV000123104\|RCV000524493\|RCV001657771\|RCV002426672\|RCV003460872;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Or	3	10183556	10183556	3:g.10183556G>A	ClinGen:CA020190	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.25G>C (p.Asp9His)	7428	VHL	Uncertain significance	587780730	RCV000807206\|RCV003362960;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10183556	10183556	3:g.10183556G>C	-
NM_000551.4(VHL):c.26A>C (p.Asp9Ala)	7428	VHL	Uncertain significance	1060503560	RCV000471735\|RCV002436462;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10183557	10183557	NC_000003.11:g.10183557A>C	ClinGen:CA16611161	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.26A>G (p.Asp9Gly)	7428	VHL	Uncertain significance	1060503560	RCV001913314;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183557	10183557	10183557	-
NM_000551.4(VHL):c.26A>T (p.Asp9Val)	7428	VHL	Uncertain significance	-1	RCV002658864;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183557	10183557	NC_000003.11:g.10183557A>T	-
NM_000551.4(VHL):c.27C>A (p.Asp9Glu)	7428	VHL	Conflicting interpretations of pathogenicity	1017141110	RCV000456617\|RCV002436463\|RCV003441887;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	3	10183558	10183558	NC_000003.11:g.10183558C>A	ClinGen:CA16611250	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.27C>T (p.Asp9=)	7428	VHL	Likely benign	1017141110	RCV000472149\|RCV002436520;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10183558	10183558	NC_000003.11:g.10183558C>T	ClinGen:CA16611251	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.27C>G (p.Asp9Glu)	7428	VHL	Uncertain significance	1017141110	RCV001050407;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183558	10183558	3:g.10183558C>G	-
NM_000551.4(VHL):c.28G>A (p.Glu10Lys)	7428	VHL	Conflicting interpretations of pathogenicity	1057519261	RCV000415643\|RCV000476548\|RCV001016912\|RCV001584111\|RCV003463824\|RCV002488864;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Me	3	10183559	10183559	NC_000003.11:g.10183559G>A	ClinGen:CA16043991	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.28G>T (p.Glu10Ter)	7428	VHL	Uncertain significance	1057519261	RCV000662559\|RCV001372824\|RCV003303094;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10183559	10183559	3:g.10183559G>T	-	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.28G>C (p.Glu10Gln)	7428	VHL	Uncertain significance	1057519261	RCV001345999\|RCV002438799;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10183559	10183559	10183559	-
NM_000551.4(VHL):c.29A>T (p.Glu10Val)	7428	VHL	Uncertain significance	786204065	RCV000167948\|RCV003462253;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10183560	10183560	3:g.10183560A>T	ClinGen:CA020251	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.29A>G (p.Glu10Gly)	7428	VHL	Uncertain significance	786204065	RCV001302369;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183560	10183560	10183560	-
NM_000551.4(VHL):c.30G>T (p.Glu10Asp)	7428	VHL	Uncertain significance	963501454	RCV000466641\|RCV000574155;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10183561	10183561	NC_000003.11:g.10183561G>T	ClinGen:CA16611059	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.30G>C (p.Glu10Asp)	7428	VHL	Uncertain significance	963501454	RCV000821203\|RCV001018646;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10183561	10183561	3:g.10183561G>C	-
NM_000551.4(VHL):c.30G>A (p.Glu10=)	7428	VHL	Likely benign	963501454	RCV001483444\|RCV002320107;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10183561	10183561	3:g.10183561G>A	-
NM_000551.4(VHL):c.31G>C (p.Ala11Pro)	7428	VHL	Conflicting interpretations of pathogenicity	1236604706	RCV000554589\|RCV000764457\|RCV001019152;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; Hum	3	10183562	10183562	NC_000003.11:g.10183562G>C	ClinGen:CA351747101	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.31G>T (p.Ala11Ser)	7428	VHL	Uncertain significance	1236604706	RCV001890358;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10183562	10183562	10183562	-
NM_000551.4(VHL):c.33_38dup (p.Val13_Gly14insGluVal)	7428	VHL	Uncertain significance	-1	RCV003049506;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183563	10183564	NC_000003.11:g.10183564_10183569dup	-
NM_000551.4(VHL):c.38_52dup (p.Val13_Glu17dup)	7428	VHL	Uncertain significance	2125124488	RCV002003475;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183564	10183565	10183564	-
NM_000551.4(VHL):c.33C>T (p.Ala11=)	7428	VHL	Likely benign	778674343	RCV002193093;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10183564	10183564	10183564	-
NM_000551.4(VHL):c.33C>G (p.Ala11=)	7428	VHL	Likely benign	-1	RCV002452021\|RCV003099456;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183564	10183564		-
NM_000551.4(VHL):c.34G>C (p.Glu12Gln)	7428	VHL	Uncertain significance	1064794788	RCV000485486\|RCV000808373\|RCV001020464\|RCV003464013;	N	MedGen:C3661900\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400	3	10183565	10183565	3:g.10183565G>C	ClinGen:CA16617779	CN169374 not specified;
NM_000551.4(VHL):c.34_35delinsTT (p.Glu12Leu)	7428	VHL	Uncertain significance	1696115662	RCV001206074\|RCV001586049\|RCV003469335;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557\|MedGen:C3661900\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10183565	10183566	NC_000003.11:g.10183565_10183566delinsTT	-
NM_000551.4(VHL):c.38_52del (p.Val13_Glu17del)	7428	VHL	Uncertain significance	2125124488	RCV001361181;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183565	10183579	10183564	-
NM_000551.4(VHL):c.35A>G (p.Glu12Gly)	7428	VHL	Uncertain significance	1380706798	RCV001364592;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183566	10183566	10183566	-
NM_000551.4(VHL):c.36G>C (p.Glu12Asp)	7428	VHL	Uncertain significance	973493604	RCV000483032\|RCV000538470\|RCV002350059\|RCV002481508;	N	MedGen:C3661900\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO	3	10183567	10183567	3:g.10183567G>C	ClinGen:CA16617780	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.37G>A (p.Val13Ile)	7428	VHL	Uncertain significance	919338576	RCV000532105;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183568	10183568	3:g.10183568G>A	ClinGen:CA70042199	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.37G>C (p.Val13Leu)	7428	VHL	Uncertain significance	919338576	RCV001927607;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10183568	10183568	10183568	-
NM_000551.4(VHL):c.38T>G (p.Val13Gly)	7428	VHL	Uncertain significance	1553619289	RCV000631277\|RCV002358759;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10183569	10183569	3:g.10183569T>G	ClinGen:CA351747163	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.38T>C (p.Val13Ala)	7428	VHL	Conflicting interpretations of pathogenicity	1553619289	RCV001210678\|RCV002356899;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10183569	10183569	3:g.10183569T>C	-
NM_000551.4(VHL):c.39A>G (p.Val13=)	7428	VHL	Likely benign	996469746	RCV000952143\|RCV001021614;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10183570	10183570	3:g.10183570A>G	-
NM_000551.4(VHL):c.39A>T (p.Val13=)	7428	VHL	Likely benign	996469746	RCV001438147\|RCV003307723;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10183570	10183570	3:g.10183570A>T	-
NM_000551.4(VHL):c.40G>C (p.Gly14Arg)	7428	VHL	Uncertain significance	1060503559	RCV000467814\|RCV002475889\|RCV003168862;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0007763,MedGen:CN074294,OMIM:144700, Orphanet:422526;	3	10183571	10183571	NC_000003.11:g.10183571G>C	ClinGen:CA16611166	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.40G>A (p.Gly14Ser)	7428	VHL	Uncertain significance	1060503559	RCV001316987\|RCV001569177;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557\|MedGen:CN517202	3	10183571	10183571	10183571	-
NM_000551.4(VHL):c.42_46del (p.Ala15fs)	7428	VHL	Uncertain significance	1301210563	RCV001984066;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183571	10183575	10183570	-
NM_000551.4(VHL):c.41G>A (p.Gly14Asp)	7428	VHL	Uncertain significance	1575921044	RCV000798642\|RCV002332613;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10183572	10183572	3:g.10183572G>A	-
NM_000551.4(VHL):c.42C>T (p.Gly14=)	7428	VHL	Conflicting interpretations of pathogenicity	1696116574	RCV001061668\|RCV002327336;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10183573	10183573	3:g.10183573C>T	-
NM_000551.4(VHL):c.42C>A (p.Gly14=)	7428	VHL	Likely benign	-1	RCV002972184;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183573	10183573		-
NM_000551.4(VHL):c.43G>A (p.Ala15Thr)	7428	VHL	Uncertain significance	1060503568	RCV000457623\|RCV002329080\|RCV003470500;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10183574	10183574	NC_000003.11:g.10183574G>A	ClinGen:CA16611060	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.45G>A (p.Ala15=)	7428	VHL	Likely benign	563813895	RCV000631304\|RCV002334058;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10183576	10183576	3:g.10183576G>A	ClinGen:CA432536174	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.45G>C (p.Ala15=)	7428	VHL	Likely benign	563813895	RCV001447693;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183576	10183576	10183576	-
NM_000551.4(VHL):c.45G>T (p.Ala15=)	7428	VHL	Likely benign	-1	RCV002342374\|RCV003094780;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183576	10183576		-
NM_000551.4(VHL):c.46G>C (p.Glu16Gln)	7428	VHL	Uncertain significance	1060503556	RCV000460356\|RCV002329079;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10183577	10183577	NC_000003.11:g.10183577G>C	ClinGen:CA16611058	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.46G>T (p.Glu16Ter)	7428	VHL	Uncertain significance	1060503556	RCV000559942\|RCV001022924;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10183577	10183577	NC_000003.11:g.10183577G>T	ClinGen:CA351747213	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.47A>C (p.Glu16Ala)	7428	VHL	Uncertain significance	864622379	RCV000204236\|RCV000662539\|RCV001023073;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10183578	10183578	3:g.10183578A>C	ClinGen:CA348482	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.48G>A (p.Glu16=)	7428	VHL	Likely benign	1057522140	RCV000436728\|RCV000468815\|RCV001023231;	N	MedGen:CN169374\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10183579	10183579	3:g.10183579G>A	ClinGen:CA16604416	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.48G>C (p.Glu16Asp)	7428	VHL	Uncertain significance	1057522140	RCV000631257\|RCV003362869;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10183579	10183579	3:g.10183579G>C	ClinGen:CA351747226	C1837915 263400 Erythrocytosis, familial, 2;
NC_000003.11:g.(?_10183579)_(10185909_?)del	7428	VHL	Pathogenic	-1	RCV001999885;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183579	10185909	-1	-
NM_000551.4(VHL):c.49G>T (p.Glu17Ter)	7428	VHL	Uncertain significance	1028898216	RCV000657735\|RCV001023391\|RCV001061392;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10183580	10183580	3:g.10183580G>T	-	CN517202 not provided;
NM_000551.4(VHL):c.49G>A (p.Glu17Lys)	7428	VHL	Uncertain significance	1028898216	RCV002039677;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183580	10183580	10183580	-
NM_000551.4(VHL):c.52del (p.Ala18fs)	7428	VHL	Uncertain significance	1696117244	RCV001070434;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183582	10183582	3:g.10183582_10183582del	-
NM_000551.4(VHL):c.51G>T (p.Glu17Asp)	7428	VHL	Uncertain significance	2125124538	RCV001360453\|RCV001773713\|RCV002341754;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10183582	10183582	10183582	-
NM_000551.4(VHL):c.53C>T (p.Ala18Val)	7428	VHL	Uncertain significance	1553619302	RCV000527264\|RCV002350176\|RCV003233701;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	3	10183584	10183584	3:g.10183584C>T	ClinGen:CA351747282	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.54A>C (p.Ala18=)	7428	VHL	Likely benign	1305687580	RCV000564260\|RCV000631300;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10183585	10183585	NC_000003.11:g.10183585A>C	ClinGen:CA432536195	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.55G>C (p.Gly19Arg)	7428	VHL	Uncertain significance	1382387188	RCV001966298;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10183586	10183586	10183586	-
NM_000551.4(VHL):c.56G>T (p.Gly19Val)	7428	VHL	Uncertain significance	2125124549	RCV001969825;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10183587	10183587	10183587	-
NM_000551.4(VHL):c.57del (p.Val20fs)	7428	VHL	Uncertain significance	1553619308	RCV000631282\|RCV003302987;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10183588	10183588	NC_000003.11:g.10183588del	ClinGen:CA658796232	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.57C>A (p.Gly19=)	7428	VHL	Likely benign	1453582828	RCV000631297;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183588	10183588	3:g.10183588C>A	ClinGen:CA432536198	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.57C>T (p.Gly19=)	7428	VHL	Likely benign	-1	RCV002578789;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183588	10183588		-
NM_000551.4(VHL):c.58G>C (p.Val20Leu)	7428	VHL	Uncertain significance	-1	RCV002299580;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183589	10183589	10183589	-
NM_000551.4(VHL):c.59T>C (p.Val20Ala)	7428	VHL	Conflicting interpretations of pathogenicity	929332564	RCV001047363\|RCV002355024;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10183590	10183590	3:g.10183590T>C	-
NM_000551.4(VHL):c.59T>A (p.Val20Asp)	7428	VHL	Uncertain significance	929332564	RCV002025581;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183590	10183590	10183590	-
NM_000551.4(VHL):c.60C>G (p.Val20=)	7428	VHL	Likely benign	1553619311	RCV000631294;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183591	10183591	NC_000003.11:g.10183591C>G	ClinGen:CA432536204	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.60C>T (p.Val20=)	7428	VHL	Likely benign	-1	RCV002360144\|RCV003098135;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183591	10183591		-
NM_000551.4(VHL):c.61G>A (p.Glu21Lys)	7428	VHL	Uncertain significance	2125124562	RCV002015601;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183592	10183592	10183592	-
NM_000551.4(VHL):c.62A>C (p.Glu21Ala)	7428	VHL	Uncertain significance	1060503548	RCV000476242\|RCV001025102\|RCV003225072\|RCV003463963;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400	3	10183593	10183593	NC_000003.11:g.10183593A>C	ClinGen:CA16611259	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.62A>T (p.Glu21Val)	7428	VHL	Uncertain significance	1060503548	RCV000818167;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183593	10183593	3:g.10183593A>T	-
NM_000551.4(VHL):c.63A>G (p.Glu21=)	7428	VHL	Likely benign	1696117984	RCV001488273\|RCV002359094;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10183594	10183594	10183594	-
NM_000551.4(VHL):c.64G>A (p.Glu22Lys)	7428	VHL	Uncertain significance	1696118115	RCV001344937;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10183595	10183595	10183595	-
NM_000551.4(VHL):c.65A>G (p.Glu22Gly)	7428	VHL	Uncertain significance	2125124570	RCV001898786\|RCV002361206;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10183596	10183596	10183596	-
NM_000551.4(VHL):c.66G>A (p.Glu22=)	7428	VHL	Likely benign	768452685	RCV000426477\|RCV002063445\|RCV002365547;	N	MedGen:CN169374\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10183597	10183597	3:g.10183597G>A	ClinGen:CA16604336	CN169374 not specified;
NM_000551.4(VHL):c.67T>C (p.Tyr23His)	7428	VHL	Uncertain significance	1696118253	RCV001891842;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183598	10183598	10183598	-
NM_000551.4(VHL):c.67T>G (p.Tyr23Asp)	7428	VHL	Uncertain significance	1696118253	RCV002001124;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183598	10183598	10183598	-
NM_000551.4(VHL):c.69C>A (p.Tyr23Ter)	7428	VHL	Uncertain significance	1553619313	RCV000663119\|RCV002360687\|RCV002530602;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10183600	10183600	3:g.10183600C>A	-	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.69C>T (p.Tyr23=)	7428	VHL	Likely benign	1553619313	RCV000938428\|RCV002363429;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10183600	10183600	3:g.10183600C>T	-
NM_000551.4(VHL):c.70G>T (p.Gly24Cys)	7428	VHL	Uncertain significance	1438223626	RCV000699569\|RCV001026041\|RCV002493219;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:	3	10183601	10183601	3:g.10183601G>T	-	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.70G>A (p.Gly24Ser)	7428	VHL	Conflicting interpretations of pathogenicity	1438223626	RCV000803089\|RCV003153844;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557\|MONDO:MONDO:0008170,MedGen:C1140680, Orphanet:213500	3	10183601	10183601	3:g.10183601G>A	-
NM_000551.4(VHL):c.70G>C (p.Gly24Arg)	7428	VHL	Uncertain significance	1438223626	RCV001874775\|RCV003164225;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10183601	10183601	10183601	-
NM_000551.4(VHL):c.71G>A (p.Gly24Asp)	7428	VHL	Uncertain significance	878854129	RCV000231328\|RCV000412262\|RCV001026150\|RCV003463663;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MO	3	10183602	10183602	3:g.10183602G>A	ClinGen:CA10582111	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.71G>T (p.Gly24Val)	7428	VHL	Uncertain significance	878854129	RCV002028247;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183602	10183602	10183602	-
NM_000551.4(VHL):c.72C>A (p.Gly24=)	7428	VHL	Likely benign	1375079282	RCV000574961\|RCV000679046\|RCV001081534;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10183603	10183603	NC_000003.11:g.10183603C>A	ClinGen:CA432536217	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.73C>G (p.Pro25Ala)	7428	VHL	Uncertain significance	745338799	RCV000465780\|RCV002383832;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10183604	10183604	NC_000003.11:g.10183604C>G	ClinGen:CA042053	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.74C>T (p.Pro25Leu)	7428	VHL	Conflicting interpretations of pathogenicity	35460768	RCV000079211\|RCV000119213\|RCV000126300\|RCV000224298\|RCV001082579\|RCV002467563;	N	MedGen:CN169374\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C001	3	10183605	10183605	3:g.10183605C>T	ClinGen:CA020538,UniProtKB:P40337#VAR_034562	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.75T>C (p.Pro25=)	7428	VHL	Likely benign	1553619317	RCV000540018\|RCV002395290;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10183606	10183606	NC_000003.11:g.10183606T>C	ClinGen:CA432536222	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.77A>G (p.Glu26Gly)	7428	VHL	Uncertain significance	-1	RCV002603364;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10183608	10183608	NC_000003.11:g.10183608A>G	-
NM_000551.4(VHL):c.80A>G (p.Glu27Gly)	7428	VHL	Uncertain significance	2125124617	RCV002423183\|RCV002019164;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10183611	10183611	10183611	-
NM_000551.4(VHL):c.83_100dup (p.Asp28_Ser33dup)	7428	VHL	Uncertain significance	1057517592	RCV000411210\|RCV000691373;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183612	10183613	NC_000003.11:g.10183614_10183631dup	ClinGen:CA16042062	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.82G>A (p.Asp28Asn)	7428	VHL	Uncertain significance	1553619319	RCV000561967\|RCV000818951\|RCV002268205;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557\|MedGen:CN169374	3	10183613	10183613	3:g.10183613G>A	ClinGen:CA351747487	C0027672 Hereditary cancer-predisposing syndrome;
NM_000551.4(VHL):c.82G>C (p.Asp28His)	7428	VHL	Uncertain significance	1553619319	RCV001889464;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183613	10183613	10183613	-
NM_000551.4(VHL):c.83A>T (p.Asp28Val)	7428	VHL	Uncertain significance	2125124629	RCV001910005;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183614	10183614	10183614	-
NM_000551.4(VHL):c.85G>C (p.Gly29Arg)	7428	VHL	Uncertain significance	1277221408	RCV000803484;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10183616	10183616	3:g.10183616G>C	-
NM_000551.4(VHL):c.85G>T (p.Gly29Cys)	7428	VHL	Uncertain significance	-1	RCV002958972;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183616	10183616	NC_000003.11:g.10183616G>T	-
NM_000551.4(VHL):c.86_87delinsTT (p.Gly29Val)	7428	VHL	Uncertain significance	879254115	RCV000235782\|RCV000533627\|RCV001018081\|RCV003401196\|RCV003463699;	N	MedGen:C3661900\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:26340	3	10183617	10183618	NC_000003.11:g.10183617_10183618delinsTT	ClinGen:CA10584228	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.86G>C (p.Gly29Ala)	7428	VHL	Uncertain significance	1553619321	RCV000543672;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183617	10183617	NC_000003.11:g.10183617G>C	ClinGen:CA351747542	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.87C>T (p.Gly29=)	7428	VHL	Likely benign	987301475	RCV000553975\|RCV000835713\|RCV002377005;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10183618	10183618	NC_000003.11:g.10183618C>T	ClinGen:CA70042244	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.88G>A (p.Gly30Arg)	7428	VHL	Conflicting interpretations of pathogenicity	913104799	RCV000685906\|RCV001018482\|RCV002298738;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	3	10183619	10183619	NC_000003.11:g.10183619G>A	-	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.88G>T (p.Gly30Trp)	7428	VHL	Uncertain significance	913104799	RCV001216618\|RCV002375187;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10183619	10183619	3:g.10183619G>T	-
NM_000551.4(VHL):c.88G>C (p.Gly30Arg)	7428	VHL	Conflicting interpretations of pathogenicity	913104799	RCV001351817\|RCV002377495\|RCV002486456;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:	3	10183619	10183619	10183619	-
NM_000551.4(VHL):c.89G>A (p.Gly30Glu)	7428	VHL	Conflicting interpretations of pathogenicity	1064793290	RCV000696976\|RCV001018619\|RCV001294070\|RCV001712442;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|Me	3	10183620	10183620	3:g.10183620G>A	ClinGen:CA16617781	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.89G>C (p.Gly30Ala)	7428	VHL	Uncertain significance	1064793290	RCV000822170\|RCV002372350;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10183620	10183620	3:g.10183620G>C	-
NM_000551.4(VHL):c.93_122dup (p.Ala35_Gly44dup)	7428	VHL	Uncertain significance	1696119887	RCV001318425;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183620	10183621	10183620	-
NM_000551.4(VHL):c.99_113dup (p.Ala35_Gly39dup)	7428	VHL	Uncertain significance	1236159514	RCV001062374\|RCV001575478\|RCV002379585\|RCV003462593;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400	3	10183621	10183622	3:g.10183621_10183622insGAGGAGTCGGGCGCC	-
NM_000551.4(VHL):c.90G>A (p.Gly30=)	7428	VHL	Likely benign	391818	RCV002111373;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183621	10183621	10183621	-
NM_000551.4(VHL):c.91G>T (p.Glu31Ter)	7428	VHL	Uncertain significance	1214275235	RCV000532705\|RCV000576425\|RCV003343894;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10183622	10183622	3:g.10183622G>T	ClinGen:CA351747598	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.93G>C (p.Glu31Asp)	7428	VHL	Uncertain significance	1438911242	RCV001243676;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183624	10183624	3:g.10183624G>C	-
NM_000551.4(VHL):c.93G>A (p.Glu31=)	7428	VHL	Likely benign	1438911242	RCV002200815;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183624	10183624	10183624	-
NM_000551.4(VHL):c.94G>A (p.Glu32Lys)	7428	VHL	Uncertain significance	-1	RCV002825634;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183625	10183625	NC_000003.11:g.10183625G>A	-
NM_000551.4(VHL):c.95A>G (p.Glu32Gly)	7428	VHL	Uncertain significance	786203104	RCV000166262\|RCV000230870\|RCV001558212\|RCV002485030;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MedGen:C3661900\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO	3	10183626	10183626	3:g.10183626A>G	ClinGen:CA020549	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.97T>A (p.Ser33Thr)	7428	VHL	Uncertain significance	868726923	RCV001296098;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183628	10183628	10183628	-
NM_000551.4(VHL):c.97del (p.Ser33fs)	7428	VHL	Uncertain significance	2125124691	RCV001916725\|RCV002269379;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MedGen:C3661900	3	10183628	10183628	10183627	-
NM_000551.4(VHL):c.98C>A (p.Ser33Ter)	7428	VHL	Uncertain significance	1476994915	RCV000792429\|RCV001019872;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10183629	10183629	3:g.10183629C>A	-
NM_000551.4(VHL):c.112_156dup (p.Ser38_Glu52dup)	7428	VHL	Uncertain significance	1575921303	RCV000813757\|RCV002440776\|RCV003461218;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10183629	10183630	3:g.10183629_10183630insGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACT	-
NM_000551.4(VHL):c.98C>T (p.Ser33Leu)	7428	VHL	Uncertain significance	1476994915	RCV001325651\|RCV002255181\|RCV003462900;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10183629	10183629	10183629	-
NM_000551.4(VHL):c.103_117dup (p.Ala35_Gly39dup)	7428	VHL	Uncertain significance	1553619337	RCV000527842;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183630	10183631	3:g.10183630_10183631insGGCGCCGAGGAGTCC	ClinGen:CA658655747	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.99G>C (p.Ser33=)	7428	VHL	Conflicting interpretations of pathogenicity	912159589	RCV000555182\|RCV001150097\|RCV002384045;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10183630	10183630	3:g.10183630G>C	ClinGen:CA70042269	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.112_156del (p.Ser38_Glu52del)	7428	VHL	Uncertain significance	1575921303	RCV001220410;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10183630	10183674	3:g.10183630_10183674del	-
NM_000551.4(VHL):c.102C>T (p.Gly34=)	7428	VHL	Likely benign	967421751	RCV002025344\|RCV003303564;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10183633	10183633	10183633	-
NM_000551.4(VHL):c.103G>A (p.Ala35Thr)	7428	VHL	Uncertain significance	1405360663	RCV000997985\|RCV001858870\|RCV002391063;	N	MedGen:C3661900\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10183634	10183634	3:g.10183634G>A	-
NM_000551.4(VHL):c.104C>A (p.Ala35Asp)	7428	VHL	Uncertain significance	587780536	RCV000119148\|RCV000663333\|RCV001017126\|RCV001588931\|RCV003460840;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Me	3	10183635	10183635	3:g.10183635C>A	ClinGen:CA020039	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.104C>T (p.Ala35Val)	7428	VHL	Uncertain significance	587780536	RCV000631275\|RCV003343961;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10183635	10183635	3:g.10183635C>T	ClinGen:CA70042288	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.105C>G (p.Ala35=)	7428	VHL	Conflicting interpretations of pathogenicity	1310829877	RCV000542575\|RCV001009767\|RCV001150098\|RCV001797098;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|Me	3	10183636	10183636	3:g.10183636C>G	ClinGen:CA432536266	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.108_122dup (p.38_42SGPEE[3])	7428	VHL	Uncertain significance	1340164546	RCV001009841\|RCV001860614;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10183636	10183637	3:g.10183636_10183637insGAGGAGTCCGGCCCG	-
NM_000551.4(VHL):c.105C>A (p.Ala35=)	7428	VHL	Likely benign	1310829877	RCV002135288;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183636	10183636	10183636	-
NM_000551.4(VHL):c.106G>T (p.Glu36Ter)	7428	VHL	Uncertain significance	1696121268	RCV001234818;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183637	10183637	3:g.10183637G>T	-
NM_000551.4(VHL):c.106G>A (p.Glu36Lys)	7428	VHL	Uncertain significance	1696121268	RCV001316060;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10183637	10183637	10183637	-
NM_000551.4(VHL):c.123_137dup (p.38SGPEE[3])	7428	VHL	Conflicting interpretations of pathogenicity	863224839	RCV000541671\|RCV000574163\|RCV001576430\|RCV003459185;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400	3	10183639	10183640	3:g.10183639_10183640insGAGTCCGGCCCGGAA	ClinGen:CA541213522	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.108G>A (p.Glu36=)	7428	VHL	Likely benign	1553619344	RCV000536363\|RCV000562764;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10183639	10183639	3:g.10183639G>A	ClinGen:CA432536268	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.123_137del (p.38SGPEE[1])	7428	VHL	Conflicting interpretations of pathogenicity	863224839	RCV000197814\|RCV000222096\|RCV000255039\|RCV000987110;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300	3	10183640	10183654	3:g.10183640_10183654del	ClinGen:CA039321	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.109G>T (p.Glu37Ter)	7428	VHL	Conflicting interpretations of pathogenicity	1338996432	RCV001092964\|RCV002554860;	N	MedGen:C3661900\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10183640	10183640	3:g.10183640G>T	-
NM_000551.4(VHL):c.111G>C (p.Glu37Asp)	7428	VHL	Uncertain significance	1398333169	RCV001758273\|RCV001861065;	N	MedGen:C3661900\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183642	10183642	10183642	-
NM_000551.4(VHL):c.111G>A (p.Glu37=)	7428	VHL	Likely benign	-1	RCV002437987\|RCV003102848;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183642	10183642		-
NM_000551.4(VHL):c.113C>T (p.Ser38Phe)	7428	VHL	Uncertain significance	867958699	RCV000803648\|RCV002453779;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10183644	10183644	3:g.10183644C>T	-
NM_000551.4(VHL):c.114C>T (p.Ser38=)	7428	VHL	Benign/Likely benign	417164	RCV000204195\|RCV000412359\|RCV000575638\|RCV001711983;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Me	3	10183645	10183645	3:g.10183645C>T	ClinGen:CA039351	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.115G>C (p.Gly39Arg)	7428	VHL	Likely benign	768650092	RCV000463141\|RCV001550254\|RCV002356707;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10183646	10183646	NC_000003.11:g.10183646G>C	ClinGen:CA039367	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.115G>A (p.Gly39Ser)	7428	VHL	Uncertain significance	768650092	RCV001010023\|RCV001309438;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10183646	10183646	3:g.10183646G>A	-
NM_000551.4(VHL):c.116G>A (p.Gly39Asp)	7428	VHL	Uncertain significance	368473853	RCV000531510;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183647	10183647	NC_000003.11:g.10183647G>A	ClinGen:CA351747884	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.116G>T (p.Gly39Val)	7428	VHL	Uncertain significance	368473853	RCV001965049\|RCV002463077\|RCV002492024\|RCV003167408;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MedGen:C3661900\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0	3	10183647	10183647	10183647	-
NM_000551.4(VHL):c.116G>C (p.Gly39Ala)	7428	VHL	Uncertain significance	-1	RCV002654345;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183647	10183647	NC_000003.11:g.10183647G>C	-
NM_000551.4(VHL):c.117C>T (p.Gly39=)	7428	VHL	Likely benign	1057521552	RCV000440608\|RCV000819962\|RCV002339019;	N	MedGen:CN169374\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10183648	10183648	3:g.10183648C>T	ClinGen:CA16604418	CN169374 not specified;
NM_000551.4(VHL):c.118C>G (p.Pro40Ala)	7428	VHL	Uncertain significance	776399733	RCV001303659\|RCV002341603;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10183649	10183649	10183649	-
NM_000551.4(VHL):c.118C>T (p.Pro40Ser)	7428	VHL	Uncertain significance	776399733	RCV001880717;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183649	10183649	10183649	-
NM_000551.4(VHL):c.119C>T (p.Pro40Leu)	7428	VHL	Conflicting interpretations of pathogenicity	200343185	RCV000122259\|RCV000199012\|RCV000565432\|RCV000662921\|RCV001588971\|RCV003153403;	N	MedGen:CN169374\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300	3	10183650	10183650	3:g.10183650C>T	ClinGen:CA020046	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.119C>G (p.Pro40Arg)	7428	VHL	Uncertain significance	200343185	RCV000997986\|RCV001858871;	N	MedGen:C3661900\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10183650	10183650	3:g.10183650C>G	-
NM_000551.4(VHL):c.120G>A (p.Pro40=)	7428	VHL	Likely benign	1189123803	RCV000868703\|RCV002352558;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10183651	10183651	3:g.10183651G>A	-
NM_000551.4(VHL):c.122A>T (p.Glu41Val)	7428	VHL	Uncertain significance	1696122750	RCV001305794;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10183653	10183653	10183653	-
NM_000551.4(VHL):c.122A>C (p.Glu41Ala)	7428	VHL	Uncertain significance	-1	RCV002721631;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10183653	10183653	NC_000003.11:g.10183653A>C	-
NM_000551.4(VHL):c.123A>G (p.Glu41=)	7428	VHL	Likely benign	2125124753	RCV002096145;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10183654	10183654	10183654	-
NM_000551.4(VHL):c.124G>A (p.Glu42Lys)	7428	VHL	Uncertain significance	1696122809	RCV001347947\|RCV002404821;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10183655	10183655	10183655	-
NM_000551.4(VHL):c.124G>C (p.Glu42Gln)	7428	VHL	Uncertain significance	1696122809	RCV001343882;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10183655	10183655	10183655	-
NM_000551.4(VHL):c.125A>C (p.Glu42Ala)	7428	VHL	Uncertain significance	1064796244	RCV000485480\|RCV001851244\|RCV002431413\|RCV002489170\|RCV003470583;	N	MedGen:C3661900\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300	3	10183656	10183656	3:g.10183656A>C	ClinGen:CA16617782	CN169374 not specified;
NM_000551.4(VHL):c.125A>G (p.Glu42Gly)	7428	VHL	Uncertain significance	1064796244	RCV001347390;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183656	10183656	10183656	-
NM_000551.4(VHL):c.127T>C (p.Ser43Pro)	7428	VHL	Uncertain significance	1696123001	RCV001338248\|RCV003313216;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557\|MedGen:CN517202	3	10183658	10183658	10183658	-
NM_000551.4(VHL):c.128C>G (p.Ser43Cys)	7428	VHL	Uncertain significance	202164771	RCV002006886;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10183659	10183659	10183659	-
NM_000551.4(VHL):c.129C>T (p.Ser43=)	7428	VHL	Likely benign	864622645	RCV001010841\|RCV001463425;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183660	10183660	3:g.10183660C>T	ClinGen:CA350263	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.129C>G (p.Ser43=)	7428	VHL	Likely benign	864622645	RCV002086309;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10183660	10183660	10183660	-
NM_000551.4(VHL):c.130G>A (p.Gly44Ser)	7428	VHL	Uncertain significance	1575921446	RCV000800391;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10183661	10183661	3:g.10183661G>A	-
NM_000551.4(VHL):c.130G>C (p.Gly44Arg)	7428	VHL	Uncertain significance	1575921446	RCV001233308\|RCV002484277;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0007763,MedGen:CN074294,OMIM:144700, Orphanet:422526; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557;	3	10183661	10183661	3:g.10183661G>C	-
NM_000551.4(VHL):c.131G>A (p.Gly44Asp)	7428	VHL	Conflicting interpretations of pathogenicity	1056226386	RCV001300923\|RCV002258187;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10183662	10183662	10183662	-
NM_000551.4(VHL):c.131G>C (p.Gly44Ala)	7428	VHL	Uncertain significance	1056226386	RCV002021926;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183662	10183662	10183662	-
NM_000551.4(VHL):c.131G>T (p.Gly44Val)	7428	VHL	Uncertain significance	1056226386	RCV001882271;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10183662	10183662	10183662	-
NM_000551.4(VHL):c.132C>T (p.Gly44=)	7428	VHL	Likely benign	1696123413	RCV001320300;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10183663	10183663	10183663	-
NM_000551.4(VHL):c.133C>G (p.Pro45Ala)	7428	VHL	Uncertain significance	1575921452	RCV000823930\|RCV002381882;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10183664	10183664	3:g.10183664C>G	-
NM_000551.4(VHL):c.134C>G (p.Pro45Arg)	7428	VHL	Likely benign	199583685	RCV000236098\|RCV001011022\|RCV001081208;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183665	10183665	3:g.10183665C>G	ClinGen:CA039433	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.134C>T (p.Pro45Leu)	7428	VHL	Uncertain significance	199583685	RCV000803524\|RCV002381760\|RCV003238229;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	3	10183665	10183665	3:g.10183665C>T	-
NM_000551.4(VHL):c.135G>A (p.Pro45=)	7428	VHL	Benign/Likely benign	773519476	RCV000198105\|RCV000524492\|RCV000564375\|RCV001651064;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Me	3	10183666	10183666	NC_000003.11:g.10183666G>A	ClinGen:CA039449	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.135G>C (p.Pro45=)	7428	VHL	Likely benign	773519476	RCV001454854;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10183666	10183666	10183666	-
NM_000551.4(VHL):c.138_160del (p.Glu46fs)	7428	VHL	Uncertain significance	1209079089	RCV001225655;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183667	10183689	3:g.10183667_10183689del	-
NM_000551.4(VHL):c.139G>A (p.Glu47Lys)	7428	VHL	Uncertain significance	1457039250	RCV000815458\|RCV002390655\|RCV003461232;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10183670	10183670	3:g.10183670G>A	-
NM_000551.4(VHL):c.139G>T (p.Glu47Ter)	7428	VHL	Uncertain significance	1457039250	RCV001239129;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183670	10183670	3:g.10183670G>T	-
NM_000551.4(VHL):c.141A>G (p.Glu47=)	7428	VHL	Likely benign	1353920298	RCV000931452\|RCV002390946;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10183672	10183672	3:g.10183672A>G	-
NM_000551.4(VHL):c.142C>A (p.Leu48Met)	7428	VHL	Uncertain significance	-1	RCV002690927;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10183673	10183673	NC_000003.11:g.10183673C>A	-
NM_000551.4(VHL):c.143T>G (p.Leu48Arg)	7428	VHL	Uncertain significance	199959170	RCV000631272;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183674	10183674	NC_000003.11:g.10183674T>G	ClinGen:CA039460	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.143T>A (p.Leu48Gln)	7428	VHL	Uncertain significance	199959170	RCV001864672;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183674	10183674	10183674	-
NM_000551.4(VHL):c.145G>C (p.Gly49Arg)	7428	VHL	Uncertain significance	1696124265	RCV001346919;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183676	10183676	10183676	-
NM_000551.4(VHL):c.146G>T (p.Gly49Val)	7428	VHL	Uncertain significance	1252338161	RCV001318363;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10183677	10183677	10183677	-
NM_000551.4(VHL):c.146G>A (p.Gly49Asp)	7428	VHL	Uncertain significance	1252338161	RCV001921763\|RCV002388859;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10183677	10183677	10183677	-
NM_000551.4(VHL):c.148G>C (p.Ala50Pro)	7428	VHL	Uncertain significance	1696124466	RCV002050011;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183679	10183679	10183679	-
NM_000551.4(VHL):c.148G>A (p.Ala50Thr)	7428	VHL	Uncertain significance	1696124466	RCV001961707;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183679	10183679	10183679	-
NM_000551.4(VHL):c.149C>T (p.Ala50Val)	7428	VHL	Uncertain significance	766576246	RCV000481405\|RCV001071961\|RCV002395163;	N	MedGen:C3661900\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10183680	10183680	3:g.10183680C>T	ClinGen:CA039477	CN169374 not specified;
NM_000551.4(VHL):c.149C>G (p.Ala50Gly)	7428	VHL	Uncertain significance	766576246	RCV001204260;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10183680	10183680	3:g.10183680C>G	-
NM_000551.4(VHL):c.150C>G (p.Ala50=)	7428	VHL	Benign/Likely benign	61751580	RCV000036538\|RCV000161100\|RCV000679018\|RCV001083936\|RCV001150099;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557\|MONDO:MONDO:0008667,MedGen:C001	3	10183681	10183681	3:g.10183681C>G	ClinGen:CA020051	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.150C>A (p.Ala50=)	7428	VHL	Likely benign	61751580	RCV000232839;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183681	10183681	3:g.10183681C>A	ClinGen:CA10582112	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.151G>A (p.Glu51Lys)	7428	VHL	Uncertain significance	1480825246	RCV000818739\|RCV002390679\|RCV003413650;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|	3	10183682	10183682	3:g.10183682G>A	-
NM_000551.4(VHL):c.151G>C (p.Glu51Gln)	7428	VHL	Uncertain significance	1480825246	RCV001042972;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183682	10183682	3:g.10183682G>C	-
NM_000551.4(VHL):c.154G>A (p.Glu52Lys)	7428	VHL	Conflicting interpretations of pathogenicity	373068386	RCV000148923\|RCV000227809\|RCV000575111\|RCV001704076\|RCV001843484\|RCV002467589\|RCV002465537\|RCV003415985;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Me	3	10183685	10183685	3:g.10183685G>A	ClinGen:CA020056,UniProtKB:P40337#VAR_005671	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.154G>T (p.Glu52Ter)	7428	VHL	Uncertain significance	373068386	RCV000161090\|RCV000576421\|RCV000656989\|RCV000685691\|RCV001012120\|RCV002505196\|RCV003315234\|RCV003462111;	N	MedGen:CN169374\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MedGen:C3661900\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557\|MONDO:MONDO:0015356,MeSH:D009386,Me	3	10183685	10183685	NC_000003.11:g.10183685G>T	ClinGen:CA020061	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.156G>A (p.Glu52=)	7428	VHL	Likely benign	2125124847	RCV002203150\|RCV002400386;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10183687	10183687	10183687	-
NM_000551.4(VHL):c.158A>G (p.Glu53Gly)	7428	VHL	Uncertain significance	2125124854	RCV001886409;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183689	10183689	10183689	-
NM_000551.4(VHL):c.159G>A (p.Glu53=)	7428	VHL	Likely benign	1553619385	RCV000631299;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183690	10183690	NC_000003.11:g.10183690G>A	ClinGen:CA432536362	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.159G>C (p.Glu53Asp)	7428	VHL	Uncertain significance	1553619385	RCV001889835;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183690	10183690	10183690	-
NM_000551.4(VHL):c.160A>T (p.Met54Leu)	7428	VHL	Conflicting interpretations of pathogenicity	1696125033	RCV001046725\|RCV003307840;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10183691	10183691	3:g.10183691A>T	-
NM_000551.4(VHL):c.163dup (p.Glu55fs)	7428	VHL	Pathogenic	869025615	RCV000208829\|RCV001036535;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183692	10183693	3:g.10183692_10183693insG	ClinGen:CA357082	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.164_171dup (p.Arg60fs)	7428	VHL	Pathogenic	886041345	RCV000267121\|RCV000767231\|RCV001859534;	N	MedGen:CN517202\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183692	10183693	3:g.10183692_10183693insGGAGGCCG	ClinGen:CA10602889	CN517202 not provided;
NM_000551.4(VHL):c.161T>G (p.Met54Arg)	7428	VHL	Likely pathogenic	-1	RCV002908478;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183692	10183692	NC_000003.11:g.10183692T>G	-
NM_000551.4(VHL):c.163G>C (p.Glu55Gln)	7428	VHL	Uncertain significance	2125124873	RCV001879504;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183694	10183694	10183694	-
NM_000551.4(VHL):c.164A>G (p.Glu55Gly)	7428	VHL	Uncertain significance	1328776664	RCV000696740;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183695	10183695	NC_000003.11:g.10183695A>G	-	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.164A>T (p.Glu55Val)	7428	VHL	Uncertain significance	-1	RCV003077447;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183695	10183695	NC_000003.11:g.10183695A>T	-
NM_000551.4(VHL):c.165G>A (p.Glu55=)	7428	VHL	Conflicting interpretations of pathogenicity	1553619391	RCV000573294\|RCV000875465;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10183696	10183696	NC_000003.11:g.10183696G>A	ClinGen:CA432536364	C0027672 Hereditary cancer-predisposing syndrome;
NM_000551.4(VHL):c.170_177del (p.Gly57fs)	7428	VHL	Pathogenic	-1	RCV003452625;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183696	10183703		-
NM_000551.4(VHL):c.167C>T (p.Ala56Val)	7428	VHL	Uncertain significance	752980085	RCV000168239\|RCV000219530\|RCV002485045;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:	3	10183698	10183698	3:g.10183698C>T	ClinGen:CA020064	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.167C>G (p.Ala56Gly)	7428	VHL	Uncertain significance	752980085	RCV000409162\|RCV000530730\|RCV000782251\|RCV001012691\|RCV003470356\|RCV002481266;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Or	3	10183698	10183698	NC_000003.11:g.10183698C>G	ClinGen:CA039566	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.168C>G (p.Ala56=)	7428	VHL	Likely benign	864622714	RCV000602914\|RCV001452811;	N	MedGen:CN169374\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183699	10183699	3:g.10183699C>G	ClinGen:CA348969	CN169374 not specified;
NM_000551.4(VHL):c.168C>T (p.Ala56=)	7428	VHL	Likely benign	864622714	RCV000463763\|RCV002413309;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10183699	10183699	NC_000003.11:g.10183699C>T	ClinGen:CA16611168	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.168C>A (p.Ala56=)	7428	VHL	Likely benign	864622714	RCV002202295;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10183699	10183699	10183699	-
NM_000551.4(VHL):c.169G>C (p.Gly57Arg)	7428	VHL	Uncertain significance	1064795194	RCV000478059\|RCV000631256\|RCV001012690;	N	MedGen:C3661900\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10183700	10183700	3:g.10183700G>C	ClinGen:CA16617783	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.169G>T (p.Gly57Trp)	7428	VHL	Uncertain significance	1064795194	RCV000798890\|RCV001012789\|RCV003467375;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10183700	10183700	3:g.10183700G>T	-
NM_000551.4(VHL):c.169G>A (p.Gly57Arg)	7428	VHL	Uncertain significance	1064795194	RCV001927506;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10183700	10183700	10183700	-
NM_000551.4(VHL):c.170G>C (p.Gly57Ala)	7428	VHL	Uncertain significance	764755691	RCV000631261;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183701	10183701	NC_000003.11:g.10183701G>C	ClinGen:CA351748619	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.171G>C (p.Gly57=)	7428	VHL	Likely benign	750103719	RCV001396874;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10183702	10183702	10183702	-
NM_000551.4(VHL):c.171G>A (p.Gly57=)	7428	VHL	Likely benign	750103719	RCV002181634\|RCV002400384;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10183702	10183702	10183702	-
NM_000551.4(VHL):c.172C>T (p.Arg58Trp)	7428	VHL	Conflicting interpretations of pathogenicity	757781272	RCV000230639\|RCV000663291\|RCV001012878\|RCV003151759\|RCV002500764;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Me	3	10183703	10183703	3:g.10183703C>T	ClinGen:CA039640	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.172C>A (p.Arg58=)	7428	VHL	Likely benign	757781272	RCV000545483;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183703	10183703	NC_000003.11:g.10183703C>A	ClinGen:CA039628	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.173G>A (p.Arg58Gln)	7428	VHL	Uncertain significance	1553619400	RCV000567236\|RCV001308464;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10183704	10183704	NC_000003.11:g.10183704G>A	ClinGen:CA351748642	C0027672 Hereditary cancer-predisposing syndrome;
NM_000551.4(VHL):c.174G>A (p.Arg58=)	7428	VHL	Likely benign	2125124907	RCV002100428;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10183705	10183705	10183705	-
NM_000551.4(VHL):c.175C>T (p.Pro59Ser)	7428	VHL	Uncertain significance	876659041	RCV000213269\|RCV000631267;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183706	10183706	3:g.10183706C>T	ClinGen:CA10578179	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.179_192del (p.Arg60fs)	7428	VHL	Pathogenic/Likely pathogenic	1064796408	RCV000479186\|RCV000803035;	N	MedGen:CN517202\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10183707	10183720	NC_000003.11:g.10183710_10183723del	ClinGen:CA16617784	CN517202 not provided;
NM_000551.4(VHL):c.176C>A (p.Pro59Gln)	7428	VHL	Uncertain significance	1696126408	RCV001342899;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10183707	10183707	10183707	-
NM_000551.4(VHL):c.176C>T (p.Pro59Leu)	7428	VHL	Uncertain significance	-1	RCV003092741;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183707	10183707	NC_000003.11:g.10183707C>T	-
NM_000551.4(VHL):c.177G>A (p.Pro59=)	7428	VHL	Likely benign	2125124920	RCV001396852;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10183708	10183708	10183708	-
NM_000551.4(VHL):c.178C>G (p.Arg60Gly)	7428	VHL	Uncertain significance	1035077469	RCV000460540\|RCV000573017;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10183709	10183709	NC_000003.11:g.10183709C>G	ClinGen:CA16611061	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.178C>T (p.Arg60Trp)	7428	VHL	Uncertain significance	1035077469	RCV001244606;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183709	10183709	3:g.10183709C>T	-
NM_000551.4(VHL):c.179G>C (p.Arg60Pro)	7428	VHL	Uncertain significance	1696126647	RCV001235452;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183710	10183710	3:g.10183710G>C	-
NM_000551.4(VHL):c.179G>T (p.Arg60Leu)	7428	VHL	Uncertain significance	1696126647	RCV001999122;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183710	10183710	10183710	-
NM_000551.4(VHL):c.180G>A (p.Arg60=)	7428	VHL	Likely benign	1224891387	RCV001505769\|RCV002409095;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10183711	10183711	3:g.10183711G>A	-
NM_000551.4(VHL):c.180G>C (p.Arg60=)	7428	VHL	Likely benign	1224891387	RCV001454337\|RCV002414088;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10183711	10183711	10183711	-
NM_000551.4(VHL):c.181C>G (p.Pro61Ala)	7428	VHL	Uncertain significance	113612866	RCV000233504\|RCV000562742\|RCV002487051;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:	3	10183712	10183712	3:g.10183712C>G	ClinGen:CA10582113	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.181C>T (p.Pro61Ser)	7428	VHL	Uncertain significance	113612866	RCV000471372\|RCV000663198\|RCV001013302;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10183712	10183712	NC_000003.11:g.10183712C>T	ClinGen:CA16611261	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.182C>T (p.Pro61Leu)	7428	VHL	Uncertain significance	746582207	RCV000560166\|RCV000573623;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10183713	10183713	3:g.10183713C>T	ClinGen:CA039669	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.182C>G (p.Pro61Arg)	7428	VHL	Uncertain significance	746582207	RCV000705281;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183713	10183713	NC_000003.11:g.10183713C>G	-	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.183C>G (p.Pro61=)	7428	VHL	Conflicting interpretations of pathogenicity	63650860	RCV000123102\|RCV000161102\|RCV000213076\|RCV000658953\|RCV001082042;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C001	3	10183714	10183714	3:g.10183714C>G	ClinGen:CA020075	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.183C>T (p.Pro61=)	7428	VHL	Benign/Likely benign	63650860	RCV000427029\|RCV000529385\|RCV000567819;	N	MedGen:CN169374\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10183714	10183714	3:g.10183714C>T	ClinGen:CA039705	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.183C>A (p.Pro61=)	7428	VHL	Likely benign	63650860	RCV001456043\|RCV003169435;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10183714	10183714	3:g.10183714C>A	-
NM_000551.4(VHL):c.184G>A (p.Val62Met)	7428	VHL	Uncertain significance	747861291	RCV001013381\|RCV001202371;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10183715	10183715	3:g.10183715G>A	-
NM_000551.4(VHL):c.184G>C (p.Val62Leu)	7428	VHL	Uncertain significance	747861291	RCV001295524\|RCV002411940;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10183715	10183715	10183715	-
NM_000551.4(VHL):c.184del (p.Val62fs)	7428	VHL	Pathogenic	-1	RCV002996158;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183715	10183715	NC_000003.11:g.10183715del	-
NM_000551.4(VHL):c.185T>A (p.Val62Glu)	7428	VHL	Uncertain significance	1696127941	RCV001218645;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10183716	10183716	3:g.10183716T>A	-
NM_000551.4(VHL):c.185T>C (p.Val62Ala)	7428	VHL	Uncertain significance	1696127941	RCV001998317\|RCV002407231\|RCV003471222;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10183716	10183716	10183716	-
NM_000551.4(VHL):c.189_193dup (p.Ser65fs)	7428	VHL	Pathogenic	-1	RCV003057752;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183716	10183717	NC_000003.11:g.10183720_10183724dup	-
NM_000551.4(VHL):c.186_187delinsTT (p.Val62_Leu63=)	7428	VHL	Likely benign	2125124945	RCV001448658;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183717	10183718	10183717	-
NM_000551.4(VHL):c.187C>T (p.Leu63=)	7428	VHL	Likely benign	-1	RCV003043808;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183718	10183718		-
NM_000551.4(VHL):c.188T>C (p.Leu63Pro)	7428	VHL	Uncertain significance	104893827	RCV000002315\|RCV000585971\|RCV000704785;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MedGen:CN517202\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10183719	10183719	3:g.10183719T>C	ClinGen:CA020079,UniProtKB:P40337#VAR_034987,OMIM:608537.0016	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.189dup (p.Arg64fs)	7428	VHL	Pathogenic/Likely pathogenic	1553619402	RCV000588397;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183719	10183720	3:g.10183719_10183720insG	ClinGen:CA658683297	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.188T>A (p.Leu63Gln)	7428	VHL	Conflicting interpretations of pathogenicity	104893827	RCV000767232\|RCV001037923;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10183719	10183719	NC_000003.11:g.10183719T>A	-
NM_000551.4(VHL):c.189_192del (p.Arg64_Ser65insTer)	7428	VHL	Pathogenic	869025647	RCV000208833;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183720	10183723	3:g.10183720_10183723del	ClinGen:CA357090	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.189G>A (p.Leu63=)	7428	VHL	Likely benign	1575921711	RCV001475154;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183720	10183720	3:g.10183720G>A	-
NM_000551.4(VHL):c.190C>A (p.Arg64Ser)	7428	VHL	Likely pathogenic	1487408934	RCV001322991;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10183721	10183721	10183721	-
NM_000551.4(VHL):c.191dup (p.Ser65fs)	7428	VHL	Pathogenic	-1	RCV002410674\|RCV003097354;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183721	10183722	10183721	-
NM_000551.4(VHL):c.191G>C (p.Arg64Pro)	7428	VHL	Pathogenic/Likely pathogenic	104893826	RCV000002314\|RCV000132356\|RCV000208872\|RCV000475973\|RCV000679019;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0009892,MedGen:C	3	10183722	10183722	3:g.10183722G>C	ClinGen:CA020089,UniProtKB:P40337#VAR_034988,OMIM:608537.0015	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.191G>A (p.Arg64His)	7428	VHL	Uncertain significance	104893826	RCV000123103\|RCV001588972;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557\|MedGen:CN517202	3	10183722	10183722	NC_000003.11:g.10183722G>A	ClinGen:CA020083	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.192del (p.Ser65fs)	7428	VHL	Pathogenic/Likely pathogenic	730882031	RCV000161076\|RCV000586821;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183723	10183723	NC_000003.11:g.10183723del	ClinGen:CA020094	C0027672 Hereditary cancer-predisposing syndrome;
NM_000551.4(VHL):c.192C>T (p.Arg64=)	7428	VHL	Likely benign	1012545817	RCV000435127\|RCV000472487\|RCV001013745\|RCV003430989;	N	MedGen:CN169374\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	3	10183723	10183723	3:g.10183723C>T	ClinGen:CA16604426	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.193T>G (p.Ser65Ala)	7428	VHL	Likely pathogenic	869025616	RCV000208812;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183724	10183724	3:g.10183724T>G	ClinGen:CA357048,UniProtKB:P40337#VAR_034989	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.193T>C (p.Ser65Pro)	7428	VHL	Pathogenic	869025616	RCV000660351;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183724	10183724	NC_000003.11:g.10183724T>C	-	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.193T>A (p.Ser65Thr)	7428	VHL	Pathogenic	869025616	RCV001929631;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183724	10183724	10183724	-
NM_000551.4(VHL):c.194C>G (p.Ser65Trp)	7428	VHL	Pathogenic	5030826	RCV000036539\|RCV000497340\|RCV001219547\|RCV002415465;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MedGen:C3661900\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Or	3	10183725	10183725	3:g.10183725C>G	ClinGen:CA020099,UniProtKB:P40337#VAR_005673	CN517202 not provided;
NM_000551.4(VHL):c.194C>T (p.Ser65Leu)	7428	VHL	Pathogenic	5030826	RCV000199197\|RCV000626711\|RCV001389259;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|Human Phenotype Ontology:HP:0009711,MONDO:MONDO:0003343,MedGen:C0730303; Human Phenotype Ontology:HP:0009713,MedGen:C4024223; Human Phenotype Ontology:HP:0001737,MedGen:C0030283; Human Phenotype	3	10183725	10183725	NC_000003.11:g.10183725C>T	ClinGen:CA020104,UniProtKB:P40337#VAR_005672	C1332900 Cerebellar hemangioblastoma;
NM_000551.4(VHL):c.194C>A (p.Ser65Ter)	7428	VHL	Pathogenic	5030826	RCV000208831\|RCV001213116\|RCV002509303\|RCV003233497;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557\|Med	3	10183725	10183725	3:g.10183725C>A	ClinGen:CA357085	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.195G>C (p.Ser65=)	7428	VHL	Likely benign	1553619409	RCV000631296\|RCV001013851;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10183726	10183726	NC_000003.11:g.10183726G>C	ClinGen:CA432536398	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.199A>C (p.Asn67His)	7428	VHL	Uncertain significance	1064794129	RCV000485402\|RCV001851172;	N	MedGen:CN517202\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10183730	10183730	3:g.10183730A>C	ClinGen:CA16617785	CN169374 not specified;
NM_000551.4(VHL):c.201C>A (p.Asn67Lys)	7428	VHL	Uncertain significance	769658318	RCV000767233;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183732	10183732	NC_000003.11:g.10183732C>A	-
NM_000551.4(VHL):c.201C>T (p.Asn67=)	7428	VHL	Likely benign	769658318	RCV002083273;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183732	10183732	10183732	-
NM_000551.4(VHL):c.201C>G (p.Asn67Lys)	7428	VHL	Uncertain significance	-1	RCV002417451\|RCV003101012;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183732	10183732	10183732	-
NM_000551.4(VHL):c.203C>A (p.Ser68Ter)	7428	VHL	Pathogenic	869025617	RCV000208815\|RCV001389820;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183734	10183734	3:g.10183734C>A	ClinGen:CA357051	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.203C>T (p.Ser68Leu)	7428	VHL	Conflicting interpretations of pathogenicity	869025617	RCV000767234\|RCV001046095\|RCV002422648;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10183734	10183734	NC_000003.11:g.10183734C>T	-
NM_000551.4(VHL):c.204G>T (p.Ser68=)	7428	VHL	Likely benign	773246608	RCV002162127;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183735	10183735	10183735	-
NM_000551.4(VHL):c.204G>C (p.Ser68=)	7428	VHL	Likely benign	773246608	RCV002168270;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10183735	10183735	10183735	-
NM_000551.4(VHL):c.206dup (p.Glu70fs)	7428	VHL	Pathogenic	1553619415	RCV000536755;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183736	10183737	3:g.10183736_10183737insG	ClinGen:CA658655754	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.205C>G (p.Arg69Gly)	7428	VHL	Uncertain significance	1428175816	RCV000695109\|RCV000764458\|RCV002422523\|RCV003460937\|RCV003442035;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557\|MONDO:MONDO:0007763,MedGen:CN074294,OMIM:144700, Orphanet:422526; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C	3	10183736	10183736	3:g.10183736C>G	-	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.205C>T (p.Arg69Cys)	7428	VHL	Uncertain significance	1428175816	RCV001368675;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183736	10183736	10183736	-
NM_000551.4(VHL):c.206G>T (p.Arg69Leu)	7428	VHL	Uncertain significance	1171336955	RCV001975677\|RCV002423169;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10183737	10183737	10183737	-
NM_000551.4(VHL):c.207C>T (p.Arg69=)	7428	VHL	Likely benign	1060503550	RCV000468253;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10183738	10183738	NC_000003.11:g.10183738C>T	ClinGen:CA16611062	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.207C>G (p.Arg69=)	7428	VHL	Likely benign	1060503550	RCV001473997\|RCV002421082;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10183738	10183738	10183738	-
NM_000551.4(VHL):c.208G>A (p.Glu70Lys)	7428	VHL	Pathogenic/Likely pathogenic	5030802	RCV000036540\|RCV000492137\|RCV001379599;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183739	10183739	3:g.10183739G>A	ClinGen:CA020108,UniProtKB:P40337#VAR_005676	C0027672 Hereditary cancer-predisposing syndrome;
NM_000551.4(VHL):c.208G>T (p.Glu70Ter)	7428	VHL	Pathogenic	5030802	RCV000492695\|RCV000679020\|RCV000767235;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183739	10183739	NC_000003.11:g.10183739G>T	ClinGen:CA16602179	C0027672 Hereditary cancer-predisposing syndrome;
NM_000551.4(VHL):c.208G>C (p.Glu70Gln)	7428	VHL	Likely pathogenic	5030802	RCV001051596;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10183739	10183739	3:g.10183739G>C	-
NM_000551.4(VHL):c.209A>G (p.Glu70Gly)	7428	VHL	Conflicting interpretations of pathogenicity	786202857	RCV000165891\|RCV000227354\|RCV001545934\|RCV003462191;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MedGen:C3661900\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400	3	10183740	10183740	3:g.10183740A>G	ClinGen:CA020113	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.209A>C (p.Glu70Ala)	7428	VHL	Uncertain significance	-1	RCV002947292;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10183740	10183740	NC_000003.11:g.10183740A>C	-
NM_000551.4(VHL):c.210G>T (p.Glu70Asp)	7428	VHL	Uncertain significance	1553619417	RCV002009429;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10183741	10183741	10183741	-
NM_000551.4(VHL):c.211C>T (p.Pro71Ser)	7428	VHL	Uncertain significance	1696129801	RCV001319640;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10183742	10183742	10183742	-
NM_000551.4(VHL):c.213del (p.Ser72fs)	7428	VHL	Pathogenic	-1	RCV003316980;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183742	10183742		-
NM_000551.4(VHL):c.213C>T (p.Pro71=)	7428	VHL	Benign/Likely benign	201663073	RCV000199646\|RCV000574494\|RCV001550802;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	3	10183744	10183744	NC_000003.11:g.10183744C>T	ClinGen:CA039814	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.213C>G (p.Pro71=)	7428	VHL	Likely benign	201663073	RCV000607846\|RCV001440207\|RCV002431763;	N	MedGen:CN169374\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10183744	10183744	3:g.10183744C>G	ClinGen:CA432536421	CN169374 not specified;
NM_000551.4(VHL):c.214T>C (p.Ser72Pro)	7428	VHL	Pathogenic/Likely pathogenic	869025618	RCV000208787\|RCV000492124\|RCV001382227;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183745	10183745	3:g.10183745T>C	ClinGen:CA357006	C0027672 Hereditary cancer-predisposing syndrome;
NM_000551.4(VHL):c.215C>T (p.Ser72Phe)	7428	VHL	Uncertain significance	962558566	RCV001071152\|RCV002429744;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10183746	10183746	3:g.10183746C>T	-
NM_000551.4(VHL):c.216C>T (p.Ser72=)	7428	VHL	Likely benign	774557051	RCV000631303\|RCV002431859;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10183747	10183747	3:g.10183747C>T	ClinGen:CA039823	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.217C>T (p.Gln73Ter)	7428	VHL	Pathogenic	869025619	RCV000208804\|RCV000679022\|RCV001218191;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MedGen:CN517202\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183748	10183748	3:g.10183748C>T	ClinGen:CA357036	CN517202 not provided;
NM_000551.4(VHL):c.217C>G (p.Gln73Glu)	7428	VHL	Uncertain significance	869025619	RCV000686913\|RCV002424590;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10183748	10183748	NC_000003.11:g.10183748C>G	-	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.218A>G (p.Gln73Arg)	7428	VHL	Uncertain significance	1295818809	RCV000708763\|RCV001059124\|RCV002469274\|RCV003403638\|RCV003460991;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557\|MedGen:C3661900\|\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:26340	3	10183749	10183749	NC_000003.11:g.10183749A>G	-	C0027672 Hereditary cancer-predisposing syndrome;
NM_000551.4(VHL):c.218A>T (p.Gln73Leu)	7428	VHL	Uncertain significance	1295818809	RCV001065319;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183749	10183749	3:g.10183749A>T	-
NM_000551.4(VHL):c.219G>C (p.Gln73His)	7428	VHL	Uncertain significance	1575921862	RCV000806476\|RCV003461160;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10183750	10183750	3:g.10183750G>C	-
NM_000551.4(VHL):c.220G>C (p.Val74Leu)	7428	VHL	Uncertain significance	2125125032	RCV001968513;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183751	10183751	10183751	-
NM_000551.4(VHL):c.223_225del (p.Ile75del)	7428	VHL	Pathogenic	794729660	RCV000002298;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183752	10183754	3:g.10183752_10183754del	ClinGen:CA020120,OMIM:608537.0001	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.221del (p.Val74fs)	7428	VHL	Pathogenic	869025620	RCV000208849;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183752	10183752	3:g.10183752_10183752del	ClinGen:CA357108	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.221T>C (p.Val74Ala)	7428	VHL	Uncertain significance	5030803	RCV000484327\|RCV000698497\|RCV002475938;	N	MedGen:CN517202\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0	3	10183752	10183752	3:g.10183752T>C	ClinGen:CA16617786	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.221T>A (p.Val74Asp)	7428	VHL	Conflicting interpretations of pathogenicity	5030803	RCV000767236\|RCV001855961;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10183752	10183752	NC_000003.11:g.10183752T>A	-
NM_000551.4(VHL):c.222_225dup (p.Phe76fs)	7428	VHL	Likely pathogenic	-1	RCV002306446;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183752	10183753	10183752	-
NM_000551.4(VHL):c.222C>G (p.Val74=)	7428	VHL	Likely benign	759737367	RCV000866060\|RCV002427131;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10183753	10183753	3:g.10183753C>G	-
NM_000551.4(VHL):c.222C>T (p.Val74=)	7428	VHL	Likely benign	759737367	RCV001450899\|RCV003365405;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10183753	10183753	10183753	-
NM_000551.4(VHL):c.223A>C (p.Ile75Leu)	7428	VHL	Uncertain significance	1060503554	RCV000466296\|RCV000571595;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10183754	10183754	NC_000003.11:g.10183754A>C	ClinGen:CA16611074	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.223A>G (p.Ile75Val)	7428	VHL	Uncertain significance	1060503554	RCV000693934\|RCV001014879;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10183754	10183754	NC_000003.11:g.10183754A>G	-	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.224TCT[1] (p.Phe76del)	7428	VHL	Pathogenic/Likely pathogenic	5030648	RCV000208790\|RCV000469401\|RCV000679023\|RCV002444839\|RCV003389711;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Or	3	10183755	10183757	3:g.10183755_10183757del	ClinGen:CA357012	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.224T>G (p.Ile75Ser)	7428	VHL	Conflicting interpretations of pathogenicity	1064794271	RCV000479941\|RCV000767237\|RCV001201718;	N	MedGen:CN517202\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10183755	10183755	3:g.10183755T>G	ClinGen:CA16617787	CN169374 not specified;
NM_000551.4(VHL):c.225C>T (p.Ile75=)	7428	VHL	Likely benign	768104793	RCV000427157\|RCV000544714\|RCV002446682;	N	MedGen:CN169374\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10183756	10183756	3:g.10183756C>T	ClinGen:CA039864	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.225C>G (p.Ile75Met)	7428	VHL	Uncertain significance	768104793	RCV000803557\|RCV002442677;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10183756	10183756	3:g.10183756C>G	-
NM_000551.4(VHL):c.226_227del (p.Phe76fs)	7428	VHL	Pathogenic	1060503552	RCV000462489\|RCV002446840;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10183757	10183758	NC_000003.11:g.10183757_10183758del	ClinGen:CA16611078	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.227T>C (p.Phe76Ser)	7428	VHL	Uncertain significance	730882033	RCV000767238;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183758	10183758	NC_000003.11:g.10183758T>C	UniProtKB:P40337#VAR_005681
NM_000551.4(VHL):c.227T>G (p.Phe76Cys)	7428	VHL	Uncertain significance	730882033	RCV000590057\|RCV001209996\|RCV002448821;	N	MedGen:C3661900\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10183758	10183758	NC_000003.11:g.10183758T>G	ClinGen:CA351749240	CN517202 not provided;
NM_000551.4(VHL):c.227T>A (p.Phe76Tyr)	7428	VHL	Uncertain significance	730882033	RCV000767239;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183758	10183758	NC_000003.11:g.10183758T>A	-
NM_000551.4(VHL):c.228C>T (p.Phe76=)	7428	VHL	Likely benign	1575921940	RCV001015080\|RCV002551773;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10183759	10183759	3:g.10183759C>T	-
NM_000551.4(VHL):c.228C>G (p.Phe76Leu)	7428	VHL	Uncertain significance	1575921940	RCV001323711;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10183759	10183759	10183759	-
NM_000551.4(VHL):c.229T>C (p.Cys77Arg)	7428	VHL	Uncertain significance	1269136170	RCV002040545;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183760	10183760	10183760	-
NM_000551.4(VHL):c.230G>C (p.Cys77Ser)	7428	VHL	Uncertain significance	1696131797	RCV001308893;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183761	10183761	10183761	-
NM_000551.4(VHL):c.231C>A (p.Cys77Ter)	7428	VHL	Pathogenic	-1	RCV002863461;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183762	10183762	NC_000003.11:g.10183762C>A	-
NM_000551.4(VHL):c.232A>T (p.Asn78Tyr)	7428	VHL	Likely pathogenic	869025621	RCV000208818\|RCV000568344;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10183763	10183763	3:g.10183763A>T	ClinGen:CA357056	C0027672 Hereditary cancer-predisposing syndrome;
NM_000551.4(VHL):c.232A>C (p.Asn78His)	7428	VHL	Pathogenic	869025621	RCV000767240;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183763	10183763	NC_000003.11:g.10183763A>C	-
NM_000551.4(VHL):c.232A>G (p.Asn78Asp)	7428	VHL	Pathogenic/Likely pathogenic	869025621	RCV000767241\|RCV001869052\|RCV002260666;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557\|MedGen:CN517202	3	10183763	10183763	NC_000003.11:g.10183763A>G	-
NM_000551.4(VHL):c.233del (p.Asn78fs)	7428	VHL	Pathogenic	1559425925	RCV000767242;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183763	10183763	NC_000003.11:g.10183764del	-
NM_000551.4(VHL):c.233A>G (p.Asn78Ser)	7428	VHL	Pathogenic	5030804	RCV000079207\|RCV000254892\|RCV000492165\|RCV001034687;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300	3	10183764	10183764	3:g.10183764A>G	ClinGen:CA020131,UniProtKB:P40337#VAR_005683	C0027672 Hereditary cancer-predisposing syndrome;
NM_000551.4(VHL):c.233A>C (p.Asn78Thr)	7428	VHL	Pathogenic	5030804	RCV000208838\|RCV000679024\|RCV000805326;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MedGen:CN517202\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183764	10183764	3:g.10183764A>C	ClinGen:CA357095,UniProtKB:P40337#VAR_005684	CN517202 not provided;
NM_000551.4(VHL):c.233A>T (p.Asn78Ile)	7428	VHL	Likely pathogenic	5030804	RCV000208821\|RCV000803184;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183764	10183764	NC_000003.11:g.10183764A>T	ClinGen:CA357063	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.235C>T (p.Arg79Cys)	7428	VHL	Uncertain significance	200885420	RCV000148920\|RCV000231302\|RCV000235492\|RCV000412420\|RCV002444611\|RCV003407569\|RCV003467206;	N	Human Phenotype Ontology:HP:0001893,Human Phenotype Ontology:HP:0001901,MONDO:MONDO:0005571,MedGen:C0032461, Orphanet:98427\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557\|MedGe	3	10183766	10183766	3:g.10183766C>T	ClinGen:CA020136	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.235C>G (p.Arg79Gly)	7428	VHL	Uncertain significance	200885420	RCV000475786\|RCV002475891;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0007763,MedGen:CN074294,OMIM:144700, Orphanet:422526; Hum	3	10183766	10183766	NC_000003.11:g.10183766C>G	ClinGen:CA16611065	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.238_246del (p.Ser80_Arg82del)	7428	VHL	Uncertain significance	1696132295	RCV001056150;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183766	10183774	3:g.10183766_10183774del	-
NM_000551.4(VHL):c.235C>A (p.Arg79Ser)	7428	VHL	Uncertain significance	-1	RCV002829941;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183766	10183766	NC_000003.11:g.10183766C>A	-
NM_000551.4(VHL):c.236G>T (p.Arg79Leu)	7428	VHL	Uncertain significance	-1	RCV002962871;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183767	10183767	NC_000003.11:g.10183767G>T	-
NM_000551.4(VHL):c.237C>G (p.Arg79=)	7428	VHL	Likely benign	760899424	RCV001015322\|RCV000946349;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183768	10183768	3:g.10183768C>G	-
NM_000551.4(VHL):c.237C>T (p.Arg79=)	7428	VHL	Benign/Likely benign	760899424	RCV001486879\|RCV002456859;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10183768	10183768	10183768	-
NM_000551.4(VHL):c.238A>G (p.Ser80Gly)	7428	VHL	Pathogenic/Likely pathogenic	786202787	RCV000165774\|RCV001388793\|RCV002307423;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183769	10183769	3:g.10183769A>G	ClinGen:CA020142	C0027672 Hereditary cancer-predisposing syndrome;
NM_000551.4(VHL):c.238A>C (p.Ser80Arg)	7428	VHL	Pathogenic	786202787	RCV000590356;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183769	10183769	3:g.10183769A>C	ClinGen:CA16621913	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.239_261del (p.Ser80fs)	7428	VHL	Pathogenic	1559425951	RCV000767243;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183769	10183791	NC_000003.11:g.10183770_10183792del	-
NM_000551.4(VHL):c.239G>T (p.Ser80Ile)	7428	VHL	Pathogenic	5030805	RCV000767244\|RCV001220559;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10183770	10183770	NC_000003.11:g.10183770G>T	-
NM_000551.4(VHL):c.239G>A (p.Ser80Asn)	7428	VHL	Pathogenic	5030805	RCV001382228;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183770	10183770	10183770	-
NM_000551.4(VHL):c.240T>C (p.Ser80=)	7428	VHL	Likely benign	1553619424	RCV000631305\|RCV003162799;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10183771	10183771	NC_000003.11:g.10183771T>C	ClinGen:CA432420444	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.241_244dup (p.Arg82fs)	7428	VHL	Pathogenic	2125125103	RCV001384689;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183771	10183772	10183771	-
NM_000551.4(VHL):c.244_259dup (p.Val87fs)	7428	VHL	Pathogenic	2125125105	RCV001383594;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183771	10183772	10183771	-
NM_000551.4(VHL):c.241C>T (p.Pro81Ser)	7428	VHL	Conflicting interpretations of pathogenicity	104893829	RCV000002321\|RCV000115744\|RCV000213077\|RCV000418681\|RCV000656990\|RCV001080004\|RCV001843451\|RCV002467489\|RCV003225718;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|Human Phenotype Ontology:HP:0002664,Human Phenotype Ontology:HP:0003008,Human Phenotype Ontology:HP:0006741,MON	3	10183772	10183772	3:g.10183772C>T	ClinGen:CA020148,UniProtKB:P40337#VAR_005689,OMIM:608537.0020	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.241C>G (p.Pro81Ala)	7428	VHL	Uncertain significance	104893829	RCV001379600;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183772	10183772	10183772	-
NM_000551.4(VHL):c.242C>T (p.Pro81Leu)	7428	VHL	Pathogenic/Likely pathogenic	193922608	RCV000030582\|RCV000129974\|RCV001034657\|RCV001547784\|RCV003460493;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557\|Me	3	10183773	10183773	3:g.10183773C>T	ClinGen:CA020154	C0027672 Hereditary cancer-predisposing syndrome;
NM_000551.4(VHL):c.242C>A (p.Pro81Gln)	7428	VHL	Conflicting interpretations of pathogenicity	193922608	RCV001771461\|RCV001868619;	N	MedGen:C3661900\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183773	10183773	10183773	-
NM_000551.4(VHL):c.244C>T (p.Arg82Cys)	7428	VHL	Uncertain significance	1214305423	RCV001201863\|RCV002447048;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10183775	10183775	3:g.10183775C>T	-
NM_000551.4(VHL):c.244C>G (p.Arg82Gly)	7428	VHL	Uncertain significance	1214305423	RCV001724795;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183775	10183775	10183775	-
NM_000551.4(VHL):c.245G>C (p.Arg82Pro)	7428	VHL	Pathogenic	794726890	RCV000173161\|RCV000724457;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MedGen:CN517202	3	10183776	10183776	3:g.10183776G>C	ClinGen:CA020159,UniProtKB:P40337#VAR_005690	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.245G>T (p.Arg82Leu)	7428	VHL	Pathogenic/Likely pathogenic	794726890	RCV000631271\|RCV001553666\|RCV002448934;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10183776	10183776	NC_000003.11:g.10183776G>T	ClinGen:CA351750555	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.245G>A (p.Arg82His)	7428	VHL	Conflicting interpretations of pathogenicity	794726890	RCV001015609\|RCV001219698;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10183776	10183776	3:g.10183776G>A	-
NM_000551.4(VHL):c.246C>T (p.Arg82=)	7428	VHL	Benign/Likely benign	587780993	RCV000126301\|RCV000213078\|RCV000206706\|RCV000679025\|RCV001084263;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MedGen:C3661900\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C001	3	10183777	10183777	3:g.10183777C>T	ClinGen:CA020164	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.247G>C (p.Val83Leu)	7428	VHL	Uncertain significance	751042065	RCV001237774\|RCV003332312;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MedGen:CN517202	3	10183778	10183778	3:g.10183778G>C	-
NM_000551.4(VHL):c.249C>G (p.Val83=)	7428	VHL	Likely benign	1271292937	RCV000537683\|RCV001015756;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10183780	10183780	3:g.10183780C>G	ClinGen:CA432420463	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.250G>T (p.Val84Leu)	7428	VHL	Pathogenic	5030827	RCV000002324\|RCV001851579\|RCV002433440;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10183781	10183781	3:g.10183781G>T	ClinGen:CA020170,UniProtKB:P40337#VAR_005692,OMIM:608537.0025	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.250G>C (p.Val84Leu)	7428	VHL	Pathogenic	5030827	RCV000216720\|RCV000588802\|RCV001382229;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183781	10183781	3:g.10183781G>C	ClinGen:CA10578180,UniProtKB:P40337#VAR_005692	C0027672 Hereditary cancer-predisposing syndrome;
NM_000551.4(VHL):c.250G>A (p.Val84Met)	7428	VHL	Conflicting interpretations of pathogenicity	5030827	RCV000492467\|RCV000631269\|RCV000767245;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183781	10183781	3:g.10183781G>A	ClinGen:CA351750580	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.251T>C (p.Val84Ala)	7428	VHL	Uncertain significance	1264207864	RCV000803042\|RCV001015832\|RCV001772071\|RCV002487706;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300	3	10183782	10183782	3:g.10183782T>C	-
NM_000551.4(VHL):c.252G>C (p.Val84=)	7428	VHL	Likely benign	1436342215	RCV000923179\|RCV003169318;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10183783	10183783	3:g.10183783G>C	-
NM_000551.4(VHL):c.252G>A (p.Val84=)	7428	VHL	Likely benign	1436342215	RCV002089476;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183783	10183783	10183783	-
NM_000551.4(VHL):c.253C>G (p.Leu85Val)	7428	VHL	Uncertain significance	1422271977	RCV001043701\|RCV002429599;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10183784	10183784	3:g.10183784C>G	-
NM_000551.4(VHL):c.255G>A (p.Leu85=)	7428	VHL	Likely benign	876658508	RCV000221809\|RCV000864426;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183786	10183786	3:g.10183786G>A	ClinGen:CA10578181	C0027672 Hereditary cancer-predisposing syndrome;
NM_000551.4(VHL):c.255G>T (p.Leu85=)	7428	VHL	Likely benign	876658508	RCV000573417\|RCV000631301;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10183786	10183786	3:g.10183786G>T	ClinGen:CA432420475	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.258dup (p.Val87fs)	7428	VHL	Pathogenic	864622545	RCV000767247;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183786	10183787	NC_000003.11:g.10183789dup	-
NM_000551.4(VHL):c.256C>G (p.Pro86Ala)	7428	VHL	Pathogenic/Likely pathogenic	398123481	RCV000079208\|RCV000723702\|RCV001227827;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MedGen:C3661900\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183787	10183787	3:g.10183787C>G	ClinGen:CA020174,UniProtKB:P40337#VAR_005693	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.256C>T (p.Pro86Ser)	7428	VHL	Pathogenic/Likely pathogenic	398123481	RCV000155449\|RCV000413630\|RCV000492763\|RCV001059327;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300	3	10183787	10183787	3:g.10183787C>T	ClinGen:CA020180,UniProtKB:P40337#VAR_005696	C0027672 Hereditary cancer-predisposing syndrome;
NM_000551.4(VHL):c.258del (p.Val87fs)	7428	VHL	Pathogenic	864622545	RCV000204033\|RCV000767246;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183787	10183787	NC_000003.11:g.10183789del	ClinGen:CA348305	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.257C>T (p.Pro86Leu)	7428	VHL	Pathogenic	730882034	RCV000208836\|RCV000492524\|RCV001382230;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183788	10183788	NC_000003.11:g.10183788C>T	ClinGen:CA020186,UniProtKB:P40337#VAR_005694	C0027672 Hereditary cancer-predisposing syndrome;
NM_000551.4(VHL):c.257C>G (p.Pro86Arg)	7428	VHL	Pathogenic	730882034	RCV000208868\|RCV000631258\|RCV002426981\|RCV003237772;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Me	3	10183788	10183788	3:g.10183788C>G	ClinGen:CA357142,UniProtKB:P40337#VAR_005695	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.258C>G (p.Pro86=)	7428	VHL	Likely benign	781063331	RCV000229128\|RCV000565109\|RCV000662444\|RCV001651085;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|Me	3	10183789	10183789	3:g.10183789C>G	ClinGen:CA040037	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.258C>T (p.Pro86=)	7428	VHL	Likely benign	781063331	RCV000873955\|RCV002434136;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10183789	10183789	3:g.10183789C>T	-
NM_000551.4(VHL):c.259G>A (p.Val87Ile)	7428	VHL	Uncertain significance	-1	RCV003112096\|RCV003162152;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10183790	10183790	NC_000003.11:g.10183790G>A	-
NM_000551.4(VHL):c.259_260del (p.Val87fs)	7428	VHL	Pathogenic	-1	RCV003450606;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183790	10183791		-
NM_000551.4(VHL):c.261A>G (p.Val87=)	7428	VHL	Likely benign	1386184754	RCV000929255\|RCV002427306;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10183792	10183792	3:g.10183792A>G	-
NM_000551.4(VHL):c.262T>A (p.Trp88Arg)	7428	VHL	Pathogenic	1553619431	RCV000558602\|RCV000587190\|RCV000679026\|RCV002431533\|RCV003459186;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Or	3	10183793	10183793	3:g.10183793T>A	ClinGen:CA351750671	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.262T>C (p.Trp88Arg)	7428	VHL	Pathogenic	1553619431	RCV000589476\|RCV000631292;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183793	10183793	3:g.10183793T>C	ClinGen:CA351750667	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.263G>C (p.Trp88Ser)	7428	VHL	Pathogenic	119103277	RCV000002306;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183794	10183794	3:g.10183794G>C	ClinGen:CA020202,UniProtKB:P40337#VAR_005698,OMIM:608537.0007	C1332900 Cerebellar hemangioblastoma;
NM_000551.4(VHL):c.263G>A (p.Trp88Ter)	7428	VHL	Pathogenic	119103277	RCV000161086\|RCV000208798\|RCV000492395\|RCV001382231;	N	MedGen:C3661900\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300	3	10183794	10183794	NC_000003.11:g.10183794G>A	ClinGen:CA020197	C0027672 Hereditary cancer-predisposing syndrome;
NM_000551.4(VHL):c.264_267dup (p.Asn90fs)	7428	VHL	Pathogenic	1696134947	RCV001220866;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10183794	10183795	3:g.10183794_10183795insGCTC	-
NM_000551.4(VHL):c.264G>T (p.Trp88Cys)	7428	VHL	Pathogenic/Likely pathogenic	869025622	RCV000208827\|RCV000492552\|RCV000537014;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183795	10183795	3:g.10183795G>T	ClinGen:CA357078	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.264G>C (p.Trp88Cys)	7428	VHL	Pathogenic	869025622	RCV000704506;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183795	10183795	3:g.10183795G>C	-	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.264G>A (p.Trp88Ter)	7428	VHL	Pathogenic	869025622	RCV001205532\|RCV003163557;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10183795	10183795	3:g.10183795G>A	-
NM_000551.4(VHL):c.265C>T (p.Leu89Phe)	7428	VHL	Conflicting interpretations of pathogenicity	1575922124	RCV000807105\|RCV003166260;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10183796	10183796	3:g.10183796C>T	-
NM_000551.4(VHL):c.266T>C (p.Leu89Pro)	7428	VHL	Pathogenic/Likely pathogenic	5030807	RCV000161087\|RCV000208869\|RCV000817709;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183797	10183797	NC_000003.11:g.10183797T>C	ClinGen:CA020207,UniProtKB:P40337#VAR_005700	C0027672 Hereditary cancer-predisposing syndrome;
NM_000551.4(VHL):c.267C>T (p.Leu89=)	7428	VHL	Likely benign	755794553	RCV000570616\|RCV000875754;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10183798	10183798	NC_000003.11:g.10183798C>T	ClinGen:CA432420493	C0027672 Hereditary cancer-predisposing syndrome;
NM_000551.4(VHL):c.267C>A (p.Leu89=)	7428	VHL	Likely benign	755794553	RCV000867811\|RCV002427149\|RCV002487905;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MO	3	10183798	10183798	3:g.10183798C>A	-
NM_000551.4(VHL):c.267C>G (p.Leu89=)	7428	VHL	Likely benign	755794553	RCV002112328\|RCV002427621;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10183798	10183798	10183798	-
NM_000551.4(VHL):c.269del (p.Asn90fs)	7428	VHL	Pathogenic	869025623	RCV000208842;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183799	10183799	NC_000003.11:g.10183800del	ClinGen:CA357100	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.269A>G (p.Asn90Ser)	7428	VHL	Uncertain significance	143985153	RCV000034799\|RCV000693265\|RCV002426542;	N	MedGen:C3661900\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10183800	10183800	3:g.10183800A>G	ClinGen:CA020212	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.269A>T (p.Asn90Ile)	7428	VHL	Likely pathogenic	143985153	RCV000208809\|RCV002426982;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10183800	10183800	3:g.10183800A>T	ClinGen:CA357043	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.269A>C (p.Asn90Thr)	7428	VHL	Uncertain significance	143985153	RCV000551615;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183800	10183800	3:g.10183800A>C	ClinGen:CA351750709	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.270C>T (p.Asn90=)	7428	VHL	Likely benign	-1	RCV002437439\|RCV003102135;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183801	10183801		-
NM_000551.4(VHL):c.271T>G (p.Phe91Val)	7428	VHL	Likely benign	1559426039	RCV000767248;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183802	10183802	NC_000003.11:g.10183802T>G	-
NM_000551.4(VHL):c.273C>A (p.Phe91Leu)	7428	VHL	Uncertain significance	1060503563	RCV000464337\|RCV001016453;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10183804	10183804	NC_000003.11:g.10183804C>A	ClinGen:CA16611270	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.273C>T (p.Phe91=)	7428	VHL	Likely benign	-1	RCV002439219\|RCV003102160;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183804	10183804		-
NM_000551.4(VHL):c.274G>T (p.Asp92Tyr)	7428	VHL	Uncertain significance	587780731	RCV000123105\|RCV001016495;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10183805	10183805	3:g.10183805G>T	ClinGen:CA020217	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.274G>A (p.Asp92Asn)	7428	VHL	Uncertain significance	587780731	RCV001975708;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10183805	10183805	10183805	-
NM_000551.4(VHL):c.275A>T (p.Asp92Val)	7428	VHL	Uncertain significance	749091984	RCV000163954\|RCV000412307\|RCV000525495\|RCV000679028\|RCV002485013\|RCV003389706\|RCV003462123;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|Me	3	10183806	10183806	3:g.10183806A>T	ClinGen:CA020224	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.277_294del (p.Gly93_Tyr98del)	7428	VHL	Uncertain significance	1559426059	RCV000696355;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183806	10183823	NC_000003.11:g.10183808_10183825del	-	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.275A>C (p.Asp92Ala)	7428	VHL	Uncertain significance	749091984	RCV002028959;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10183806	10183806	10183806	-
NM_000551.4(VHL):c.276C>T (p.Asp92=)	7428	VHL	Likely benign	1442093467	RCV000570428\|RCV000865963;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10183807	10183807	NC_000003.11:g.10183807C>T	ClinGen:CA432420499	C0027672 Hereditary cancer-predisposing syndrome;
NM_000551.4(VHL):c.276C>G (p.Asp92Glu)	7428	VHL	Uncertain significance	1442093467	RCV001209620;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10183807	10183807	3:g.10183807C>G	-
NM_000551.4(VHL):c.277G>A (p.Gly93Ser)	7428	VHL	Pathogenic	5030808	RCV000002325\|RCV000208813\|RCV000698471\|RCV002433441\|RCV003460405;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837	3	10183808	10183808	3:g.10183808G>A	ClinGen:CA020230,UniProtKB:P40337#VAR_005705,OMIM:608537.0026	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.277G>C (p.Gly93Arg)	7428	VHL	Likely pathogenic	5030808	RCV000208861\|RCV001035237\|RCV002433917;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10183808	10183808	NC_000003.11:g.10183808G>C	ClinGen:CA357130	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.277G>T (p.Gly93Cys)	7428	VHL	Pathogenic	5030808	RCV000208845;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183808	10183808	3:g.10183808G>T	ClinGen:CA357106,UniProtKB:P40337#VAR_005703	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.278del (p.Gly93fs)	7428	VHL	Pathogenic	1131690964	RCV000492462\|RCV000767250;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183808	10183808	3:g.10183808_10183808del	ClinGen:CA432420500	C0027672 Hereditary cancer-predisposing syndrome;
NM_000551.4(VHL):c.278G>A (p.Gly93Asp)	7428	VHL	Pathogenic	1553619440	RCV000586256\|RCV001853983;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183809	10183809	3:g.10183809G>A	ClinGen:CA351750781	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.278_279delinsTT (p.Gly93Val)	7428	VHL	Likely pathogenic	1559426072	RCV000707314\|RCV001016587;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10183809	10183810	NC_000003.11:g.10183809_10183810delinsTT	-	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.278G>T (p.Gly93Val)	7428	VHL	Uncertain significance	1553619440	RCV000767249;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183809	10183809	NC_000003.11:g.10183809G>T	-
NM_000551.4(VHL):c.279C>T (p.Gly93=)	7428	VHL	Uncertain significance	1696136079	RCV001350958;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183810	10183810	10183810	-
NM_000551.4(VHL):c.280G>A (p.Glu94Lys)	7428	VHL	Uncertain significance	5030829	RCV000123106\|RCV000166872;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10183811	10183811	3:g.10183811G>A	ClinGen:CA020237	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.280G>T (p.Glu94Ter)	7428	VHL	Pathogenic	5030829	RCV000708631\|RCV000767251\|RCV001222557;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10183811	10183811	NC_000003.11:g.10183811G>T	-	C0027672 Hereditary cancer-predisposing syndrome;
NM_000551.4(VHL):c.281A>T (p.Glu94Val)	7428	VHL	Uncertain significance	-1	RCV002681325;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183812	10183812	NC_000003.11:g.10183812A>T	-
NM_000551.4(VHL):c.283C>T (p.Pro95Ser)	7428	VHL	Uncertain significance	1376530057	RCV000818489;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183814	10183814	3:g.10183814C>T	-
NM_000551.4(VHL):c.284C>T (p.Pro95Leu)	7428	VHL	Uncertain significance	964996401	RCV000698452\|RCV003106023\|RCV003338740;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10183815	10183815	NC_000003.11:g.10183815C>T	-	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.284C>G (p.Pro95Arg)	7428	VHL	Likely pathogenic	964996401	RCV001786528;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183815	10183815	10183815	-
NM_000551.4(VHL):c.285G>T (p.Pro95=)	7428	VHL	Likely benign	975432073	RCV000602281\|RCV001016806\|RCV000867955;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10183816	10183816	3:g.10183816G>T	ClinGen:CA70046206	CN169374 not specified;
NM_000551.4(VHL):c.285G>A (p.Pro95=)	7428	VHL	Likely benign	975432073	RCV002255927\|RCV003101416;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183816	10183816		-
NM_000551.4(VHL):c.286_288delinsACC (p.Gln96Thr)	7428	VHL	Uncertain significance	2125125241	RCV001931250;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183817	10183819	10183817	-
NM_000551.4(VHL):c.287A>C (p.Gln96Pro)	7428	VHL	Conflicting interpretations of pathogenicity	1559426089	RCV000767252\|RCV002440591;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10183818	10183818	NC_000003.11:g.10183818A>C	-
NM_000551.4(VHL):c.288G>A (p.Gln96=)	7428	VHL	Likely benign	1553619446	RCV000571921\|RCV002060536;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10183819	10183819	NC_000003.11:g.10183819G>A	ClinGen:CA432420511	C0027672 Hereditary cancer-predisposing syndrome;
NM_000551.4(VHL):c.288G>T (p.Gln96His)	7428	VHL	Uncertain significance	1553619446	RCV001327546;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10183819	10183819	10183819	-
NM_000551.4(VHL):c.289C>T (p.Pro97Ser)	7428	VHL	Uncertain significance	863224688	RCV000200000\|RCV001345453\|RCV003343699;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10183820	10183820	NC_000003.11:g.10183820C>T	ClinGen:CA339035	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.289C>A (p.Pro97Thr)	7428	VHL	Uncertain significance	863224688	RCV000536081;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183820	10183820	3:g.10183820C>A	ClinGen:CA351750843	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.292_295del (p.Tyr98fs)	7428	VHL	Pathogenic	1559426095	RCV000767253;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183821	10183824	NC_000003.11:g.10183823_10183826del	-
NM_000551.4(VHL):c.290C>T (p.Pro97Leu)	7428	VHL	Uncertain significance	2125125249	RCV002022744\|RCV002441194;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10183821	10183821	10183821	-
NM_000551.4(VHL):c.291C>T (p.Pro97=)	7428	VHL	Likely benign	1805159	RCV001470568;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183822	10183822	3:g.10183822C>T	ClinGen:CA432420514	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.291C>G (p.Pro97=)	7428	VHL	Conflicting interpretations of pathogenicity	1805159	RCV000631295\|RCV001143971\|RCV002438649;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10183822	10183822	NC_000003.11:g.10183822C>G	ClinGen:CA70046209	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.291_302del (p.Tyr98_Leu101del)	7428	VHL	Pathogenic	1575922296	RCV000812797;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183822	10183833	3:g.10183822_10183833del	-
NM_000551.4(VHL):c.292T>C (p.Tyr98His)	7428	VHL	Pathogenic	5030809	RCV000002309\|RCV000492094\|RCV000684783\|RCV000679029;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557\|Me	3	10183823	10183823	3:g.10183823T>C	ClinGen:CA020246,UniProtKB:P40337#VAR_005707,OMIM:608537.0009	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.293dup (p.Tyr98Ter)	7428	VHL	Pathogenic	869025624	RCV000208788;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183823	10183824	3:g.10183823_10183824insA	ClinGen:CA357009	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.292T>A (p.Tyr98Asn)	7428	VHL	Pathogenic	-1	RCV003388486;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183823	10183823		-
NM_000551.4(VHL):c.293A>C (p.Tyr98Ser)	7428	VHL	Pathogenic/Likely pathogenic	864321643	RCV000203508\|RCV000208847\|RCV001064921\|RCV002433899;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0	3	10183824	10183824	3:g.10183824A>C	ClinGen:CA279916	C0031511 171300 Pheochromocytoma;
NM_000551.4(VHL):c.293A>G (p.Tyr98Cys)	7428	VHL	Pathogenic	864321643	RCV000208825\|RCV001218807\|RCV001357107;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MedGen:CN517202	3	10183824	10183824	NC_000003.11:g.10183824A>G	ClinGen:CA357072	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.296dup (p.Thr100fs)	7428	VHL	Pathogenic	869025625	RCV000208817;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183824	10183825	NC_000003.11:g.10183827dup	ClinGen:CA357055	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.294C>G (p.Tyr98Ter)	7428	VHL	Pathogenic	1559426115	RCV000767254;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183825	10183825	NC_000003.11:g.10183825C>G	-
NM_000551.4(VHL):c.294C>T (p.Tyr98=)	7428	VHL	Likely benign	1559426115	RCV000936582;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183825	10183825	3:g.10183825C>T	-
NM_000551.4(VHL):c.295C>A (p.Pro99Thr)	7428	VHL	Uncertain significance	549807529	RCV001294550\|RCV002437001;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10183826	10183826	10183826	-
NM_000551.4(VHL):c.295C>G (p.Pro99Ala)	7428	VHL	Uncertain significance	549807529	RCV001340628;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10183826	10183826	10183826	-
NM_000551.4(VHL):c.296C>G (p.Pro99Arg)	7428	VHL	Uncertain significance	1553619452	RCV000631286\|RCV003162798;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10183827	10183827	3:g.10183827C>G	ClinGen:CA351750938	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.297A>C (p.Pro99=)	7428	VHL	Likely benign	774753107	RCV000524569\|RCV000563656;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10183828	10183828	3:g.10183828A>C	ClinGen:CA432420520	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.298del (p.Thr100fs)	7428	VHL	Pathogenic	2125125269	RCV001389890;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10183828	10183828	10183827	-
NM_000551.4(VHL):c.298A>G (p.Thr100Ala)	7428	VHL	Conflicting interpretations of pathogenicity	745901803	RCV000631270\|RCV000997987\|RCV002255483\|RCV002477380;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400	3	10183829	10183829	3:g.10183829A>G	ClinGen:CA040192	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.298A>C (p.Thr100Pro)	7428	VHL	Uncertain significance	745901803	RCV001990879;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10183829	10183829	10183829	-
NM_000551.4(VHL):c.300dup (p.Leu101fs)	7428	VHL	Pathogenic	869025626	RCV000208859;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183830	10183831	3:g.10183830_10183831insG	ClinGen:CA357126	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.299C>T (p.Thr100Met)	7428	VHL	Uncertain significance	1346874866	RCV000797870\|RCV002255525;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10183830	10183830	3:g.10183830C>T	-
NM_000551.4(VHL):c.300G>A (p.Thr100=)	7428	VHL	Likely benign	915491008	RCV001467896;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10183831	10183831	10183831	-
NM_000551.4(VHL):c.300G>T (p.Thr100=)	7428	VHL	Likely benign	915491008	RCV001490346\|RCV002439177;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10183831	10183831	10183831	-
NM_000551.4(VHL):c.301C>T (p.Leu101=)	7428	VHL	Likely benign	772300829	RCV000430995\|RCV001462251\|RCV002436261;	N	MedGen:CN169374\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10183832	10183832	3:g.10183832C>T	ClinGen:CA040223	CN169374 not specified;
NM_000551.4(VHL):c.302T>C (p.Leu101Pro)	7428	VHL	Likely pathogenic	1553619456	RCV000574983\|RCV001858152;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183833	10183833	NC_000003.11:g.10183833T>C	ClinGen:CA351751000	C0027672 Hereditary cancer-predisposing syndrome;
NM_000551.4(VHL):c.302T>G (p.Leu101Arg)	7428	VHL	Likely pathogenic	-1	RCV002435999\|RCV003455513;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183833	10183833	10183833	-
NM_000551.4(VHL):c.304_305dup (p.Pro103fs)	7428	VHL	Pathogenic	1559426145	RCV000767255;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183834	10183835	NC_000003.11:g.10183835_10183836dup	-
NM_000551.4(VHL):c.303G>A (p.Leu101=)	7428	VHL	Likely benign	766583052	RCV001429686\|RCV002449163;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10183834	10183834	10183834	-
NM_000551.4(VHL):c.304C>T (p.Pro102Ser)	7428	VHL	Uncertain significance	532018719	RCV001063174;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183835	10183835	3:g.10183835C>T	-
NM_000551.4(VHL):c.305C>T (p.Pro102Leu)	7428	VHL	Uncertain significance	1379270197	RCV000799472\|RCV003322824;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MedGen:CN517202	3	10183836	10183836	3:g.10183836C>T	-
NM_000551.4(VHL):c.305C>A (p.Pro102Gln)	7428	VHL	Uncertain significance	1379270197	RCV001889147;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183836	10183836	10183836	-
NM_000551.4(VHL):c.306G>T (p.Pro102=)	7428	VHL	Likely benign	550155859	RCV001426532\|RCV002449153;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10183837	10183837	10183837	-
NM_000551.4(VHL):c.306G>A (p.Pro102=)	7428	VHL	Likely benign	-1	RCV002968158;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183837	10183837		-
NM_000551.4(VHL):c.307C>G (p.Pro103Ala)	7428	VHL	Uncertain significance	864622267	RCV000204487\|RCV001018501\|RCV001370713;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183838	10183838	3:g.10183838C>G	ClinGen:CA348715	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.309dup (p.Gly104fs)	7428	VHL	Pathogenic	869025628	RCV000208819;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183839	10183840	3:g.10183839_10183840insT	ClinGen:CA357059	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.308C>T (p.Pro103Leu)	7428	VHL	Conflicting interpretations of pathogenicity	2125125299	RCV001988554\|RCV002324453;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10183839	10183839	10183839	-
NM_000551.4(VHL):c.309del (p.Gly104fs)	7428	VHL	Pathogenic	869025627	RCV000208801;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183840	10183840	3:g.10183840_10183840del	ClinGen:CA357031	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.309T>C (p.Pro103=)	7428	VHL	Likely benign	1262511541	RCV001392213;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183840	10183840	10183840	-
NM_000551.4(VHL):c.311_340+20del	7428	VHL	Likely pathogenic	869025629	RCV000208853;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183841	10183890	3:g.10183841_10183890del	ClinGen:CA357118	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.311G>T (p.Gly104Val)	7428	VHL	Conflicting interpretations of pathogenicity	869025630	RCV000208803\|RCV000679030;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MedGen:CN517202	3	10183842	10183842	NC_000003.11:g.10183842G>T	ClinGen:CA357033	CN517202 not provided;
NM_000551.4(VHL):c.311G>C (p.Gly104Ala)	7428	VHL	Uncertain significance	869025630	RCV000467167;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10183842	10183842	NC_000003.11:g.10183842G>C	ClinGen:CA16611067	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.312C>T (p.Gly104=)	7428	VHL	Conflicting interpretations of pathogenicity	946898891	RCV000539418\|RCV001018749\|RCV001545850\|RCV003392366;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|	3	10183843	10183843	3:g.10183843C>T	ClinGen:CA70046276	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.313A>C (p.Thr105Pro)	7428	VHL	Pathogenic	1553619461	RCV000589007;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183844	10183844	3:g.10183844A>C	ClinGen:CA351751116	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.314dup (p.Arg107fs)	7428	VHL	Pathogenic	2125125325	RCV002002254;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10183844	10183845	10183844	-
NM_000551.4(VHL):c.314C>T (p.Thr105Met)	7428	VHL	Uncertain significance	761240835	RCV001366797;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183845	10183845	10183845	-
NM_000551.4(VHL):c.315G>C (p.Thr105=)	7428	VHL	Likely benign	769102979	RCV000433860\|RCV000458236\|RCV001018869;	N	MedGen:CN169374\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10183846	10183846	3:g.10183846G>C	ClinGen:CA040259	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.315G>A (p.Thr105=)	7428	VHL	Conflicting interpretations of pathogenicity	769102979	RCV000441982\|RCV000456708;	N	MedGen:CN169374\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183846	10183846	3:g.10183846G>A	ClinGen:CA16604755	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.315G>T (p.Thr105=)	7428	VHL	Likely benign	769102979	RCV001461503;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10183846	10183846	10183846	-
NM_000551.4(VHL):c.319CGC[1] (p.Arg108del)	7428	VHL	Uncertain significance	869191373	RCV000817864;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183848	10183850	3:g.10183848_10183850del	-
NM_000551.4(VHL):c.319C>G (p.Arg107Gly)	7428	VHL	Pathogenic/Likely pathogenic	397516440	RCV000036542\|RCV000763091\|RCV002321506;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0007763,MedGen:CN074294,OMIM:144700, Orphanet:422526; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; Hum	3	10183850	10183850	3:g.10183850C>G	ClinGen:CA020257,UniProtKB:P40337#VAR_034991	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.320G>C (p.Arg107Pro)	7428	VHL	Pathogenic/Likely pathogenic	193922609	RCV000030583\|RCV000486047\|RCV000492682\|RCV000816283;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Or	3	10183851	10183851	3:g.10183851G>C	ClinGen:CA020262,UniProtKB:P40337#VAR_005713	C0027672 Hereditary cancer-predisposing syndrome;
NM_000551.4(VHL):c.320G>A (p.Arg107His)	7428	VHL	Pathogenic	193922609	RCV000208864\|RCV000492448\|RCV001379601;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183851	10183851	3:g.10183851G>A	ClinGen:CA357135	C0027672 Hereditary cancer-predisposing syndrome;
NM_000551.4(VHL):c.321C>T (p.Arg107=)	7428	VHL	Uncertain significance	864622334	RCV000204667;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183852	10183852	NC_000003.11:g.10183852C>T	ClinGen:CA348868	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.323G>A (p.Arg108His)	7428	VHL	Uncertain significance	367594943	RCV000458083\|RCV001019385\|RCV002269278\|RCV002489087;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400	3	10183854	10183854	NC_000003.11:g.10183854G>A	ClinGen:CA040275	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.323G>T (p.Arg108Leu)	7428	VHL	Uncertain significance	-1	RCV002928132;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10183854	10183854	NC_000003.11:g.10183854G>T	-
NM_000551.4(VHL):c.324C>T (p.Arg108=)	7428	VHL	Likely benign	878854124	RCV000230851;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183855	10183855	3:g.10183855C>T	ClinGen:CA10582114	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.326T>A (p.Ile109Asn)	7428	VHL	Conflicting interpretations of pathogenicity	398123482	RCV000079209\|RCV000767256\|RCV002321574;	N	MedGen:C3661900\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10183857	10183857	3:g.10183857T>A	ClinGen:CA020268	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.327C>T (p.Ile109=)	7428	VHL	Likely benign	863224371	RCV002515456;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183858	10183858	3:g.10183858C>T	ClinGen:CA336376	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.327C>G (p.Ile109Met)	7428	VHL	Uncertain significance	863224371	RCV001338507\|RCV002322272;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10183858	10183858	10183858	-
NM_000551.4(VHL):c.327C>A (p.Ile109=)	7428	VHL	Likely benign	863224371	RCV001433022;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183858	10183858	10183858	-
NM_000551.4(VHL):c.329dup (p.His110fs)	7428	VHL	Pathogenic	-1	RCV002797091;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183859	10183860	NC_000003.11:g.10183860dup	-
NM_000551.4(VHL):c.328C>A (p.His110Asn)	7428	VHL	Uncertain significance	-1	RCV003015727;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10183859	10183859	NC_000003.11:g.10183859C>A	-
NM_000551.4(VHL):c.329del (p.His110fs)	7428	VHL	Pathogenic	1559426199	RCV000679031\|RCV002531399;	N	MedGen:CN517202\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183860	10183860	NC_000003.11:g.10183860del	-	CN517202 not provided;
NM_000551.4(VHL):c.329A>G (p.His110Arg)	7428	VHL	Uncertain significance	2125125380	RCV001362968;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10183860	10183860	10183860	-
NM_000551.4(VHL):c.330C>G (p.His110Gln)	7428	VHL	Uncertain significance	1696140667	RCV001071787;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183861	10183861	3:g.10183861C>G	-
NM_000551.4(VHL):c.330_331delinsTT (p.Ser111Cys)	7428	VHL	Pathogenic	-1	RCV002651638;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10183861	10183862	NC_000003.11:g.10183861_10183862delinsTT	-
NM_000551.4(VHL):c.330C>T (p.His110=)	7428	VHL	Likely benign	-1	RCV002858295;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183861	10183861		-
NM_000551.4(VHL):c.331A>T (p.Ser111Cys)	7428	VHL	Pathogenic	1559426203	RCV000685144;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183862	10183862	3:g.10183862A>T	-	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.331A>G (p.Ser111Gly)	7428	VHL	Pathogenic	1559426203	RCV000780788\|RCV001039507;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10183862	10183862	NC_000003.11:g.10183862A>G	-
NM_000551.4(VHL):c.331A>C (p.Ser111Arg)	7428	VHL	Pathogenic	-1	RCV003450556;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183862	10183862		-
NM_000551.4(VHL):c.332G>A (p.Ser111Asn)	7428	VHL	Pathogenic	869025631	RCV000208834\|RCV000492721\|RCV002517414;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183863	10183863	3:g.10183863G>A	UniProtKB:P40337#VAR_005715,ClinGen:CA357091	C0027672 Hereditary cancer-predisposing syndrome;
NM_000551.4(VHL):c.332G>T (p.Ser111Ile)	7428	VHL	Uncertain significance	869025631	RCV000208794;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183863	10183863	3:g.10183863G>T	ClinGen:CA357019	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.333C>G (p.Ser111Arg)	7428	VHL	Pathogenic	765978945	RCV000208866\|RCV000492675\|RCV001204150;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183864	10183864	3:g.10183864C>G	ClinGen:CA040305,UniProtKB:P40337#VAR_005716	C0027672 Hereditary cancer-predisposing syndrome;
NM_000551.4(VHL):c.333C>T (p.Ser111=)	7428	VHL	Likely benign	765978945	RCV001394876;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10183864	10183864	NC_000003.11:g.10183864C>T	ClinGen:CA16611087	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.334T>C (p.Tyr112His)	7428	VHL	Pathogenic	104893824	RCV000002308\|RCV000698407\|RCV002321468\|RCV003407257;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|	3	10183865	10183865	3:g.10183865T>C	ClinGen:CA020277,UniProtKB:P40337#VAR_005717,OMIM:608537.0012	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.334T>A (p.Tyr112Asn)	7428	VHL	Pathogenic	104893824	RCV000002316;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183865	10183865	3:g.10183865T>A	ClinGen:CA020273,UniProtKB:P40337#VAR_034992,OMIM:608537.0017	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.335A>G (p.Tyr112Cys)	7428	VHL	Conflicting interpretations of pathogenicity	869025633	RCV000208852\|RCV000219736\|RCV000631262\|RCV001289414;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|Me	3	10183866	10183866	3:g.10183866A>G	ClinGen:CA357115	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.335_340+5del	7428	VHL	Likely pathogenic	869025632	RCV000208806\|RCV003165512;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10183866	10183876	3:g.10183866_10183876del	ClinGen:CA357040	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.336C>T (p.Tyr112=)	7428	VHL	Likely benign	751232153	RCV001719994\|RCV002061569;	N	MedGen:C3661900\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10183867	10183867	3:g.10183867C>T	ClinGen:CA040315	CN169374 not specified;
NM_000551.4(VHL):c.336C>G (p.Tyr112Ter)	7428	VHL	Pathogenic/Likely pathogenic	751232153	RCV000780787\|RCV001068352\|RCV003307415;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10183867	10183867	NC_000003.11:g.10183867C>G	-
NM_000551.4(VHL):c.337C>T (p.Arg113Ter)	7428	VHL	Pathogenic	5030810	RCV000204250\|RCV000456132\|RCV003165497;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10183868	10183868	3:g.10183868C>T	ClinGen:CA348491	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.339_340+5del	7428	VHL	Pathogenic	1575922562	RCV000792121;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10183868	10183874	3:g.10183868_10183874del	-
NM_000551.4(VHL):c.337C>G (p.Arg113Gly)	7428	VHL	Uncertain significance	5030810	RCV001295407;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183868	10183868	10183868	-
NM_000551.4(VHL):c.338G>C (p.Arg113Pro)	7428	VHL	Uncertain significance	767062290	RCV000467414\|RCV002451138\|RCV003230506;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374	3	10183869	10183869	NC_000003.11:g.10183869G>C	ClinGen:CA040338	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.339A>G (p.Arg113=)	7428	VHL	Uncertain significance	2125125416	RCV001979053;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10183870	10183870	10183870	-
NM_000551.4(VHL):c.339A>C (p.Arg113=)	7428	VHL	Uncertain significance	-1	RCV002597019;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183870	10183870		-
NM_000551.4(VHL):c.340G>C (p.Gly114Arg)	7428	VHL	Pathogenic	869025636	RCV000208843;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183871	10183871	3:g.10183871G>C	ClinGen:CA357101	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.340+2_340+6del	7428	VHL	Pathogenic	869025634	RCV000208840;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183871	10183875	3:g.10183871_10183875del	ClinGen:CA357098	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.340G>A (p.Gly114Ser)	7428	VHL	Pathogenic	869025636	RCV000707336\|RCV003353002;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10183871	10183871	NC_000003.11:g.10183871G>A	-	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.340+1G>C	7428	VHL	Pathogenic/Likely pathogenic	730882032	RCV000589885\|RCV001850279\|RCV003328124;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557\|MedGen:CN517202	3	10183872	10183872	NC_000003.11:g.10183872G>C	ClinGen:CA020282	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.340+1G>A	7428	VHL	Pathogenic	730882032	RCV000208808\|RCV001044454\|RCV001701877\|RCV002517415;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MedGen:CN517202\|MeSH:D030342,MedGen:C0950123	3	10183872	10183872	3:g.10183872G>A	ClinGen:CA357042	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.340+3A>G	7428	VHL	Conflicting interpretations of pathogenicity	1575922597	RCV000794955\|RCV001020206\|RCV001592972;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	3	10183874	10183874	3:g.10183874A>G	-
NM_000551.4(VHL):c.340+4C>T	7428	VHL	Uncertain significance	2125125426	RCV001363925;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10183875	10183875	10183875	-
NM_000551.4(VHL):c.340+4C>G	7428	VHL	Uncertain significance	-1	RCV002630530;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183875	10183875	NC_000003.11:g.10183875C>G	-
NM_000551.4(VHL):c.340+5_340+17dup	7428	VHL	Likely benign	-1	RCV002838849;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183875	10183876	NC_000003.11:g.10183876_10183888dup	-
NM_000551.4(VHL):c.340+5G>C	7428	VHL	Benign/Likely benign	61758376	RCV000030584\|RCV000115745\|RCV000155670\|RCV000514988\|RCV001084166;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C183791	3	10183876	10183876	3:g.10183876G>C	ClinGen:CA020288	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.340+7del	7428	VHL	Likely benign	1575922613	RCV001462637;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10183876	10183876	3:g.10183876_10183876del	-
NM_000551.4(VHL):c.340+5G>A	7428	VHL	Uncertain significance	61758376	RCV001979981;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10183876	10183876	10183876	-
NM_000551.4(VHL):c.340+6G>A	7428	VHL	Uncertain significance	1278726013	RCV000791497;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10183877	10183877	3:g.10183877G>A	-
NM_000551.4(VHL):c.340+7G>C	7428	VHL	Likely benign	869025635	RCV000208811\|RCV000977543;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183878	10183878	3:g.10183878G>C	ClinGen:CA357047	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.340+8C>A	7428	VHL	Likely benign	756068442	RCV000603128\|RCV000875307;	N	MedGen:CN169374\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10183879	10183879	3:g.10183879C>A	ClinGen:CA040449	CN169374 not specified;
NM_000551.4(VHL):c.340+8C>T	7428	VHL	Likely benign	756068442	RCV000767257\|RCV001060942;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10183879	10183879	NC_000003.11:g.10183879C>T	-
NM_000551.4(VHL):c.340+10del	7428	VHL	Likely benign	2125125434	RCV002194976;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10183879	10183879	10183878	-
NM_000551.4(VHL):c.340+9C>T	7428	VHL	Likely benign	1575922622	RCV001466683;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10183880	10183880	3:g.10183880C>T	-
NM_000551.4(VHL):c.340+10C>A	7428	VHL	Likely benign	777622214	RCV000897711;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183881	10183881	3:g.10183881C>A	-
NM_000551.4(VHL):c.340+10C>T	7428	VHL	Likely benign	777622214	RCV000945664;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10183881	10183881	3:g.10183881C>T	-
NM_000551.4(VHL):c.340+10C>G	7428	VHL	Likely benign	-1	RCV003082031;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183881	10183881	NC_000003.11:g.10183881C>G	-
NM_000551.4(VHL):c.340+11G>A	7428	VHL	Likely benign	1309285376	RCV000679032\|RCV001855626;	N	MedGen:CN517202\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183882	10183882	NC_000003.11:g.10183882G>A	-	CN517202 not provided;
NM_000551.4(VHL):c.340+11G>T	7428	VHL	Likely benign	-1	RCV003073850;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183882	10183882	NC_000003.11:g.10183882G>T	-
NM_000551.4(VHL):c.340+15C>T	7428	VHL	Likely benign	-1	RCV003045802;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10183886	10183886	NC_000003.11:g.10183886C>T	-
NM_000551.4(VHL):c.340+20G>A	7428	VHL	Likely benign	757151154	RCV000209265\|RCV002054355;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183891	10183891	3:g.10183891G>A	ClinGen:CA040398	C0027672 Hereditary cancer-predisposing syndrome;
NM_000551.4(VHL):c.340+20G>T	7428	VHL	Likely benign	757151154	RCV002140623;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10183891	10183891	10183891	-
NM_000551.4(VHL):c.340+221_464-1411del	7428	VHL	Pathogenic	-1	RCV001293314;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10184047	10190015	10184046	-
NC_000003.11:g.10184086_10218542del	7428	VHL	Pathogenic	-1	RCV001293313;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10184086	10218542	-1	-
NM_000551.4(VHL):c.340+283_463+499del	7428	VHL	Pathogenic	-1	RCV001293315;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10184144	10188809	10184143	-
NM_000551.4(VHL):c.340+307_464-1191del	7428	VHL	Pathogenic	-1	RCV001293316;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10184160	10190262	10184159	-
NM_000551.4(VHL):c.340+365_464-909del	7428	VHL	Pathogenic	-1	RCV001293278;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10184219	10190545	10184218	-
NM_000551.4(VHL):c.340+428_464-1203del	7428	VHL	Pathogenic	-1	RCV001293279;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10184256	10190225	10184255	-
NM_000551.4(VHL):c.340+444_464-1187del	7428	VHL	Pathogenic	-1	RCV001293280;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10184309	10190278	10184308	-
NM_000551.4(VHL):c.340+574A>T	7428	VHL	Uncertain significance	982745672	RCV001344145;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10184445	10184445	10184445	-
NM_000551.4(VHL):c.340+575G>T	7428	VHL	Uncertain significance	2125125827	RCV001888320;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10184446	10184446	10184446	-
NM_000551.4(VHL):c.340+576T>C	7428	VHL	Uncertain significance	-1	RCV003028795;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10184447	10184447	NC_000003.11:g.10184447T>C	-
NM_000551.4(VHL):c.340+577C>G	7428	VHL	Uncertain significance	1696157821	RCV001231548;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10184448	10184448	3:g.10184448C>G	-
NM_000551.4(VHL):c.340+577C>T	7428	VHL	Uncertain significance	-1	RCV002681874;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10184448	10184448	NC_000003.11:g.10184448C>T	-
NM_000551.4(VHL):c.340+578C>T	7428	VHL	Conflicting interpretations of pathogenicity	139622356	RCV001053915\|RCV002497415\|RCV003316825\|RCV003320798;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C	3	10184449	10184449	3:g.10184449C>T	-
NM_000551.4(VHL):c.340+581A>G	7428	VHL	Uncertain significance	968298760	RCV001295936;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10184452	10184452	10184452	-
NM_000551.4(VHL):c.340+581A>C	7428	VHL	Uncertain significance	968298760	RCV001316513;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10184452	10184452	10184452	-
NM_000551.4(VHL):c.340+583G>C	7428	VHL	Uncertain significance	2125125847	RCV002042455;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10184454	10184454	10184454	-
NM_000551.4(VHL):c.340+587C>G	7428	VHL	Uncertain significance	1488349413	RCV001997626;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10184458	10184458	10184458	-
NM_000551.4(VHL):c.340+588C>A	7428	VHL	Uncertain significance	1696158160	RCV001299056;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10184459	10184459	10184459	-
NM_000551.4(VHL):c.340+589A>C	7428	VHL	Uncertain significance	2125125850	RCV001371370;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10184460	10184460	10184460	-
NM_000551.4(VHL):c.340+590G>C	7428	VHL	Uncertain significance	1696158201	RCV001236119;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10184461	10184461	3:g.10184461G>C	-
NM_000551.4(VHL):c.340+591T>C	7428	VHL	Uncertain significance	-1	RCV002631646;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10184462	10184462	NC_000003.11:g.10184462T>C	-
NM_000551.4(VHL):c.340+592G>A	7428	VHL	Uncertain significance	1696158247	RCV001210526;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10184463	10184463	3:g.10184463G>A	-
NM_000551.4(VHL):c.340+594G>T	7428	VHL	Uncertain significance	1235225768	RCV001373116;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10184465	10184465	10184465	-
NM_000551.4(VHL):c.340+595C>T	7428	VHL	Uncertain significance	1335472800	RCV001056083;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10184466	10184466	3:g.10184466C>T	-
NM_000551.4(VHL):c.340+595C>A	7428	VHL	Uncertain significance	1335472800	RCV001226610;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10184466	10184466	3:g.10184466C>A	-
NM_000551.4(VHL):c.340+598G>A	7428	VHL	Uncertain significance	2125125857	RCV002033729;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10184469	10184469	10184469	-
NM_000551.4(VHL):c.340+601C>G	7428	VHL	Uncertain significance	978373924	RCV001061961;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10184472	10184472	3:g.10184472C>G	-
NM_000551.4(VHL):c.340+601C>T	7428	VHL	Uncertain significance	-1	RCV003049768;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10184472	10184472	NC_000003.11:g.10184472C>T	-
NM_000551.4(VHL):c.340+603G>C	7428	VHL	Uncertain significance	-1	RCV002740343;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10184474	10184474	NC_000003.11:g.10184474G>C	-
NM_000551.4(VHL):c.340+604C>T	7428	VHL	Likely benign	192085256	RCV001046596;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10184475	10184475	3:g.10184475C>T	-
NM_000551.4(VHL):c.340+605G>C	7428	VHL	Uncertain significance	1696158642	RCV001338277;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10184476	10184476	10184476	-
NM_000551.4(VHL):c.340+605G>T	7428	VHL	Uncertain significance	1696158642	RCV001368308;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10184476	10184476	10184476	-
NM_000551.4(VHL):c.340+605G>A	7428	VHL	Uncertain significance	1696158642	RCV001971682;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10184476	10184476	10184476	-
NM_000551.4(VHL):c.340+607A>G	7428	VHL	Uncertain significance	2125125866	RCV001987291;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10184478	10184478	10184478	-
NM_000551.4(VHL):c.340+608del	7428	VHL	Uncertain significance	1696158689	RCV001068708;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10184479	10184479	3:g.10184479_10184479del	-
NM_000551.4(VHL):c.340+613dup	7428	VHL	Uncertain significance	2125125871	RCV002050520;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10184483	10184484	10184483	-
NM_000551.4(VHL):c.340+613T>C	7428	VHL	Uncertain significance	-1	RCV002824083;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10184484	10184484	NC_000003.11:g.10184484T>C	-
NM_000551.4(VHL):c.340+614G>T	7428	VHL	Uncertain significance	2125125873	RCV001362645;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10184485	10184485	10184485	-
NM_000551.4(VHL):c.340+614del	7428	VHL	Uncertain significance	2125125876	RCV002017835;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10184485	10184485	10184484	-
NM_000551.4(VHL):c.340+615C>A	7428	VHL	Uncertain significance	961184868	RCV001326372;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10184486	10184486	10184486	-
NM_000551.4(VHL):c.340+615C>T	7428	VHL	Uncertain significance	961184868	RCV001887581;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10184486	10184486	10184486	-
NM_000551.4(VHL):c.340+616C>T	7428	VHL	Uncertain significance	544465283	RCV001061358;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10184487	10184487	3:g.10184487C>T	-
NM_000551.4(VHL):c.340+617C>G	7428	VHL	Uncertain significance	1575923261	RCV002552003;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10184488	10184488	3:g.10184488C>G	OMIM:608537.0032,ClinVar:816687
NM_000551.4(VHL):c.340+617C>T	7428	VHL	Uncertain significance	1575923261	RCV001349326;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10184488	10184488	10184488	-
NM_000551.4(VHL):c.340+618T>G	7428	VHL	Uncertain significance	1379155896	RCV001303468;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10184489	10184489	10184489	-
NM_000551.4(VHL):c.340+619C>T	7428	VHL	Uncertain significance	1319443909	RCV001865175;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10184490	10184490	10184490	-
NM_000551.4(VHL):c.340+621T>C	7428	VHL	Conflicting interpretations of pathogenicity	562162481	RCV001406624\|RCV003416325;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|	3	10184492	10184492	10184492	-
NM_000551.4(VHL):c.340+622G>A	7428	VHL	Uncertain significance	2125125888	RCV002037261;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10184493	10184493	10184493	-
NM_000551.4(VHL):c.340+623G>A	7428	VHL	Uncertain significance	2125125891	RCV001871216;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10184494	10184494	10184494	-
NM_000551.4(VHL):c.340+625G>A	7428	VHL	Uncertain significance	2125125893	RCV001995522;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10184496	10184496	10184496	-
NM_000551.4(VHL):c.340+626A>G	7428	VHL	Uncertain significance	1696159137	RCV001314314;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10184497	10184497	10184497	-
NM_000551.4(VHL):c.340+627A>C	7428	VHL	Uncertain significance	1696159189	RCV001230325;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10184498	10184498	3:g.10184498A>C	-
NM_000551.4(VHL):c.340+630_340+631del	7428	VHL	Uncertain significance	1696159237	RCV001351551;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10184498	10184499	10184497	-
NM_000551.4(VHL):c.340+627A>G	7428	VHL	Likely benign	-1	RCV002627742;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10184498	10184498	NC_000003.11:g.10184498A>G	-
NM_000551.4(VHL):c.340+629A>G	7428	VHL	Uncertain significance	-1	RCV002999031;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10184500	10184500	NC_000003.11:g.10184500A>G	-
NM_000551.4(VHL):c.340+630C>T	7428	VHL	Uncertain significance	2125125896	RCV001995759;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10184501	10184501	10184501	-
NM_000551.4(VHL):c.340+631A>T	7428	VHL	Likely benign	947805761	RCV001037097;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10184502	10184502	3:g.10184502A>T	-
NM_000551.4(VHL):c.340+631A>G	7428	VHL	Likely benign	947805761	RCV001318031;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10184502	10184502	10184502	-
NM_000551.4(VHL):c.340+633del	7428	VHL	Uncertain significance	2125125902	RCV001903925;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10184503	10184503	10184502	-
NM_000551.4(VHL):c.340+633T>C	7428	VHL	Uncertain significance	2125125904	RCV001370146;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10184504	10184504	10184504	-
NM_000551.4(VHL):c.340+634C>T	7428	VHL	Likely benign	1461514639	RCV001042466;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10184505	10184505	3:g.10184505C>T	-
NM_000551.4(VHL):c.340+634C>A	7428	VHL	Uncertain significance	1461514639	RCV001969777;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10184505	10184505	10184505	-
NM_000551.4(VHL):c.340+635C>T	7428	VHL	Uncertain significance	2125125908	RCV002018324;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10184506	10184506	10184506	-
NM_000551.4(VHL):c.340+637C>A	7428	VHL	Uncertain significance	1696159418	RCV001226354;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10184508	10184508	3:g.10184508C>A	-
NM_000551.4(VHL):c.340+637C>T	7428	VHL	Uncertain significance	-1	RCV003011626;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10184508	10184508	NC_000003.11:g.10184508C>T	-
NM_000551.4(VHL):c.340+638C>G	7428	VHL	Uncertain significance	973712723	RCV001307749;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10184509	10184509	10184509	-
NM_000551.4(VHL):c.340+638C>T	7428	VHL	Uncertain significance	973712723	RCV001882213;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10184509	10184509	10184509	-
NM_000551.4(VHL):c.340+641G>C	7428	VHL	Uncertain significance	1422221693	RCV001305562;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10184512	10184512	10184512	-
NM_000551.4(VHL):c.340+641_340+642insCTCC	7428	VHL	Uncertain significance	-1	RCV002885000;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10184512	10184513	NC_000003.11:g.10184512_10184513insCTCC	-
NM_000551.4(VHL):c.340+643G>A	7428	VHL	Uncertain significance	1165627970	RCV001344295;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10184514	10184514	10184514	-
NM_000551.4(VHL):c.340+643G>T	7428	VHL	Uncertain significance	1165627970	RCV002046114;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10184514	10184514	10184514	-
NM_000551.4(VHL):c.340+646A>T	7428	VHL	Likely benign	765323685	RCV001042467;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10184517	10184517	3:g.10184517A>T	-
NM_000551.4(VHL):c.340+646A>G	7428	VHL	Likely benign	765323685	RCV001058533;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10184517	10184517	3:g.10184517A>G	-
NM_000551.4(VHL):c.340+647C>G	7428	VHL	Uncertain significance	929633840	RCV001359839;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10184518	10184518	10184518	-
NM_000551.4(VHL):c.340+648T>C	7428	VHL	Benign/Likely benign	73024533	RCV001785769\|RCV001516863\|RCV002465825\|RCV003325985;	N	MedGen:C3661900\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MedGen:CN169374\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10184519	10184519	3:g.10184519T>C	OMIM:608537.0032,ClinVar:816687
NM_000551.4(VHL):c.340+649G>C	7428	VHL	Uncertain significance	1696159926	RCV002043404;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10184520	10184520	10184520	-
NM_000551.4(VHL):c.340+650A>T	7428	VHL	Uncertain significance	2125125925	RCV001961297;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10184521	10184521	10184521	-
NM_000551.4(VHL):c.340+650A>C	7428	VHL	Uncertain significance	-1	RCV003008993;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10184521	10184521	NC_000003.11:g.10184521A>C	-
NM_000551.4(VHL):c.340+651C>T	7428	VHL	Uncertain significance	1251375973	RCV001294786;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10184522	10184522	10184522	-
NM_000551.4(VHL):c.340+653_340+654del	7428	VHL	Uncertain significance	1420441572	RCV001045814;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10184523	10184524	3:g.10184523_10184524del	-
NM_000551.4(VHL):c.340+652A>C	7428	VHL	Uncertain significance	1696160044	RCV001045159;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10184523	10184523	3:g.10184523A>C	-
NM_000551.4(VHL):c.340+654A>G	7428	VHL	Uncertain significance	-1	RCV003039199;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10184525	10184525	NC_000003.11:g.10184525A>G	-
NM_000551.4(VHL):c.340+655T>C	7428	VHL	Uncertain significance	2125125937	RCV001925351;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10184526	10184526	10184526	-
NM_000551.4(VHL):c.340+657C>G	7428	VHL	Uncertain significance	987014948	RCV002042130;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10184528	10184528	10184528	-
NM_000551.4(VHL):c.340+663C>T	7428	VHL	Uncertain significance	1272443616	RCV002048815;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10184534	10184534	10184534	-
NM_000551.4(VHL):c.340+666dup	7428	VHL	Uncertain significance	-1	RCV002943734;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10184535	10184536	NC_000003.11:g.10184537dup	-
NM_000551.4(VHL):c.340+665G>C	7428	VHL	Uncertain significance	1696160266	RCV001294365;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10184536	10184536	10184536	-
NM_000551.4(VHL):c.340+666del	7428	VHL	Uncertain significance	2125125944	RCV001365060;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10184536	10184536	10184535	-
NM_000551.4(VHL):c.340+665G>A	7428	VHL	Uncertain significance	1696160266	RCV001883050;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10184536	10184536	10184536	-
NM_000551.4(VHL):c.340+668dup	7428	VHL	Uncertain significance	2125125946	RCV001906408;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10184537	10184538	10184537	-
NM_000551.4(VHL):c.340+668A>G	7428	VHL	Uncertain significance	2125125949	RCV001981038;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10184539	10184539	10184539	-
NM_000551.4(VHL):c.340+669C>T	7428	VHL	Uncertain significance	2125125953	RCV002023842;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10184540	10184540	10184540	-
NM_000551.4(VHL):c.340+670A>G	7428	VHL	Uncertain significance	2125125958	RCV001961642;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10184541	10184541	10184541	-
NM_000551.4(VHL):c.340+672G>T	7428	VHL	Uncertain significance	1696160349	RCV001221016;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10184543	10184543	3:g.10184543G>T	-
NM_000551.4(VHL):c.340+673C>G	7428	VHL	Uncertain significance	-1	RCV002579386;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10184544	10184544	NC_000003.11:g.10184544C>G	-
NM_000551.4(VHL):c.340+674C>T	7428	VHL	Uncertain significance	1696160438	RCV002046296;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10184545	10184545	10184545	-
NM_000551.4(VHL):c.340+675A>G	7428	VHL	Uncertain significance	1194123576	RCV001365997;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10184546	10184546	10184546	-
NM_000551.4(VHL):c.340+677G>A	7428	VHL	Uncertain significance	2125125965	RCV002037254;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10184548	10184548	10184548	-
NM_000551.4(VHL):c.340+679T>G	7428	VHL	Benign	866935879	RCV001521639;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10184550	10184550	10184550	-
NM_000551.4(VHL):c.340+681A>T	7428	VHL	Uncertain significance	1696160604	RCV001228989;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10184552	10184552	3:g.10184552A>T	-
NM_000551.4(VHL):c.340+682T>C	7428	VHL	Uncertain significance	1696160646	RCV001239062;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10184553	10184553	3:g.10184553T>C	-
NM_000551.4(VHL):c.340+685T>A	7428	VHL	Uncertain significance	1696160690	RCV001875168;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10184556	10184556	10184556	-
NM_000551.4(VHL):c.340+686_340+687del	7428	VHL	Likely benign	944477902	RCV001478830;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10184557	10184558	10184556	-
NM_000551.4(VHL):c.340+687G>A	7428	VHL	Uncertain significance	2125125975	RCV001366132;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10184558	10184558	10184558	-
NM_000551.4(VHL):c.340+688C>T	7428	VHL	Uncertain significance	1696160788	RCV001052336;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10184559	10184559	3:g.10184559C>T	-
NM_000551.4(VHL):c.340+688C>G	7428	VHL	Uncertain significance	-1	RCV002830045;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10184559	10184559	NC_000003.11:g.10184559C>G	-
NM_000551.4(VHL):c.340+689G>T	7428	VHL	Uncertain significance	-1	RCV002885112;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10184560	10184560	NC_000003.11:g.10184560G>T	-
NM_000551.4(VHL):c.340+690C>A	7428	VHL	Uncertain significance	-1	RCV002617849;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10184561	10184561	NC_000003.11:g.10184561C>A	-
NM_000551.4(VHL):c.340+690C>T	7428	VHL	Uncertain significance	-1	RCV003031938;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10184561	10184561	NC_000003.11:g.10184561C>T	-
NM_000551.4(VHL):c.340+691C>G	7428	VHL	Likely benign	1041395081	RCV001059073\|RCV003311935;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MedGen:C3661900	3	10184562	10184562	3:g.10184562C>G	-
NM_000551.4(VHL):c.340+691C>T	7428	VHL	Uncertain significance	1041395081	RCV001921875;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10184562	10184562	10184562	-
NM_000551.4(VHL):c.340+694_340+711dup	7428	VHL	Uncertain significance	1575923363	RCV001007627\|RCV001066413;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10184563	10184564	3:g.10184563_10184564insGAAGAGCCGACCGTGTGT	OMIM:608537.0031
NM_000551.4(VHL):c.340+692G>C	7428	VHL	Uncertain significance	943884473	RCV001345741;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10184563	10184563	10184563	-
NM_000551.4(VHL):c.340+695_340+702dup	7428	VHL	Uncertain significance	1381868678	RCV001352380;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10184563	10184564	10184563	-
NM_000551.4(VHL):c.340+692G>A	7428	VHL	Uncertain significance	943884473	RCV001359327;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10184563	10184563	10184563	-
NM_000551.4(VHL):c.340+692G>T	7428	VHL	Uncertain significance	943884473	RCV001950515;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10184563	10184563	10184563	-
NM_000551.4(VHL):c.340+693_340+698del	7428	VHL	Uncertain significance	1369151672	RCV001953057;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10184563	10184568	10184562	-
NM_000551.4(VHL):c.340+693del	7428	VHL	Uncertain significance	-1	RCV002880525;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10184563	10184563	NC_000003.11:g.10184564del	-
NM_000551.4(VHL):c.340+693G>A	7428	VHL	Uncertain significance	2125125987	RCV001982274;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10184564	10184564	10184564	-
NM_000551.4(VHL):c.340+694A>G	7428	VHL	Uncertain significance	1441240589	RCV001343077;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10184565	10184565	10184565	-
NM_000551.4(VHL):c.340+694A>C	7428	VHL	Uncertain significance	1441240589	RCV001363267;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10184565	10184565	10184565	-
NM_000551.4(VHL):c.340+695del	7428	VHL	Uncertain significance	2125125992	RCV002027824;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10184565	10184565	10184564	-
NM_000551.4(VHL):c.340+696G>T	7428	VHL	Uncertain significance	1353527753	RCV001043011\|RCV003396646;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557\|	3	10184567	10184567	3:g.10184567G>T	-
NM_000551.4(VHL):c.340+696G>A	7428	VHL	Uncertain significance	1353527753	RCV001903331;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10184567	10184567	10184567	-
NM_000551.4(VHL):c.340+700_340+701insCTTCC	7428	VHL	Uncertain significance	2125125995	RCV001938063;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10184569	10184570	10184569	-
NM_000551.4(VHL):c.340+702_340+705del	7428	VHL	Uncertain significance	2125125997	RCV001950691;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10184570	10184573	10184569	-
NM_000551.4(VHL):c.340+700C>G	7428	VHL	Uncertain significance	778132298	RCV001359925;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10184571	10184571	10184571	-
NM_000551.4(VHL):c.340+701G>A	7428	VHL	Uncertain significance	1039517619	RCV001034112;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10184572	10184572	3:g.10184572G>A	-
NM_000551.4(VHL):c.340+701G>C	7428	VHL	Uncertain significance	1039517619	RCV001296020;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10184572	10184572	10184572	-
NM_000551.4(VHL):c.340+701G>T	7428	VHL	Likely benign	1039517619	RCV001347010;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10184572	10184572	10184572	-
NM_000551.4(VHL):c.340+704C>T	7428	VHL	Uncertain significance	1696161517	RCV001243397;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10184575	10184575	3:g.10184575C>T	-
NM_000551.4(VHL):c.340+704C>A	7428	VHL	Likely benign	-1	RCV002837681;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10184575	10184575	NC_000003.11:g.10184575C>A	-
NM_000551.4(VHL):c.340+705G>C	7428	VHL	Uncertain significance	1411141967	RCV001045346;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10184576	10184576	3:g.10184576G>C	-
NM_000551.4(VHL):c.340+705G>A	7428	VHL	Uncertain significance	1411141967	RCV001047535;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10184576	10184576	3:g.10184576G>A	-
NM_000551.4(VHL):c.340+706T>G	7428	VHL	Uncertain significance	1696161617	RCV001240759;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10184577	10184577	3:g.10184577T>G	-
NM_000551.4(VHL):c.340+706T>A	7428	VHL	Uncertain significance	1696161617	RCV001361292;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10184577	10184577	10184577	-
NM_000551.4(VHL):c.340+707G>A	7428	VHL	Uncertain significance	924279704	RCV001341761;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10184578	10184578	10184578	-
NM_000551.4(VHL):c.340+709G>T	7428	VHL	Uncertain significance	935892552	RCV001041402;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10184580	10184580	3:g.10184580G>T	-
NM_000551.4(VHL):c.340+710T>G	7428	VHL	Uncertain significance	2125126011	RCV001365585;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10184581	10184581	10184581	-
NM_000551.4(VHL):c.340+710T>C	7428	VHL	Uncertain significance	-1	RCV003015090;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10184581	10184581	NC_000003.11:g.10184581T>C	-
NM_000551.4(VHL):c.340+712G>T	7428	VHL	Uncertain significance	1696161869	RCV001324160;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10184583	10184583	10184583	-
NM_000551.4(VHL):c.340+713C>T	7428	VHL	Likely benign	1432659600	RCV001037891;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10184584	10184584	3:g.10184584C>T	-
NM_000551.4(VHL):c.340+713C>A	7428	VHL	Uncertain significance	1432659600	RCV001306546;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10184584	10184584	10184584	-
NM_000551.4(VHL):c.340+714G>C	7428	VHL	Uncertain significance	1054796088	RCV001067226;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10184585	10184585	3:g.10184585G>C	-
NM_000551.4(VHL):c.340+714G>A	7428	VHL	Uncertain significance	1054796088	RCV001323871\|RCV001810030;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072	3	10184585	10184585	10184585	-
NM_000551.4(VHL):c.340+714G>T	7428	VHL	Likely benign	1054796088	RCV001312692;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10184585	10184585	10184585	-
NM_000551.4(VHL):c.340+715T>G	7428	VHL	Uncertain significance	2125126018	RCV001892197;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10184586	10184586	10184586	-
NM_000551.4(VHL):c.340+716G>A	7428	VHL	Uncertain significance	1696162086	RCV001337572;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10184587	10184587	10184587	-
NM_000551.4(VHL):c.340+716G>C	7428	VHL	Likely benign	1696162086	RCV002189562;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10184587	10184587	10184587	-
NM_000551.4(VHL):c.340+720A>G	7428	VHL	Uncertain significance	2125126022	RCV001359338;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10184591	10184591	10184591	-
NM_000551.4(VHL):c.340+722T>C	7428	VHL	Uncertain significance	1696162133	RCV001343047;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10184593	10184593	10184593	-
NM_000551.4(VHL):c.340+724G>C	7428	VHL	Benign	900590059	RCV001071159;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10184595	10184595	3:g.10184595G>C	-
NM_000551.4(VHL):c.340+725A>G	7428	VHL	Uncertain significance	2125126029	RCV001928631;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10184596	10184596	10184596	-
NM_000551.4(VHL):c.340+728dup	7428	VHL	Likely benign	1232519357	RCV001043168;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10184597	10184598	3:g.10184597_10184598insT	-
NM_000551.4(VHL):c.340+726C>T	7428	VHL	Uncertain significance	1575923399	RCV001324732;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10184597	10184597	10184597	-
NM_000551.4(VHL):c.340+726C>G	7428	VHL	Uncertain significance	1575923399	RCV001969786;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10184597	10184597	10184597	-
NM_000551.4(VHL):c.340+727T>G	7428	VHL	Likely benign	996243576	RCV001071666;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10184598	10184598	3:g.10184598T>G	-
NM_000551.4(VHL):c.340+728T>C	7428	VHL	Uncertain significance	1696162498	RCV001312837;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10184599	10184599	10184599	-
NM_000551.4(VHL):c.340+729A>C	7428	VHL	Uncertain significance	2125126034	RCV002006647;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10184600	10184600	10184600	-
NM_000551.4(VHL):c.340+730C>G	7428	VHL	Likely benign	548008573	RCV001042309;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10184601	10184601	3:g.10184601C>G	-
NM_000551.4(VHL):c.340+730C>A	7428	VHL	Uncertain significance	548008573	RCV001217469;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10184601	10184601	3:g.10184601C>A	-
NM_000551.4(VHL):c.340+730C>T	7428	VHL	Uncertain significance	548008573	RCV001248580;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10184601	10184601	3:g.10184601C>T	-
NM_000551.4(VHL):c.340+731C>T	7428	VHL	Uncertain significance	-1	RCV002842861;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10184602	10184602	NC_000003.11:g.10184602C>T	-
NM_000551.4(VHL):c.340+732T>G	7428	VHL	Uncertain significance	1696162641	RCV001053601;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10184603	10184603	3:g.10184603T>G	-
NM_000551.4(VHL):c.340+733G>A	7428	VHL	Uncertain significance	2125126040	RCV002023333;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10184604	10184604	10184604	-
NM_000551.4(VHL):c.340+733G>T	7428	VHL	Uncertain significance	2125126040	RCV002025365;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10184604	10184604	10184604	-
NM_000551.4(VHL):c.340+733G>C	7428	VHL	Uncertain significance	2125126040	RCV001922003;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10184604	10184604	10184604	-
NM_000551.4(VHL):c.340+735C>G	7428	VHL	Uncertain significance	-1	RCV002847861;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10184606	10184606	NC_000003.11:g.10184606C>G	-
NM_000551.4(VHL):c.340+737G>C	7428	VHL	Likely benign	1696162735	RCV001242687;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10184608	10184608	3:g.10184608G>C	-
NM_000551.4(VHL):c.340+738C>T	7428	VHL	Likely benign	1274332503	RCV001070891;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10184609	10184609	3:g.10184609C>T	-
NM_000551.4(VHL):c.340+739T>G	7428	VHL	Uncertain significance	2125126047	RCV001870184;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10184610	10184610	10184610	-
NM_000551.4(VHL):c.340+742G>T	7428	VHL	Likely benign	186099278	RCV001051090;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10184613	10184613	3:g.10184613G>T	-
NM_000551.4(VHL):c.340+742G>C	7428	VHL	Uncertain significance	186099278	RCV001916250;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10184613	10184613	10184613	-
NM_000551.4(VHL):c.340+746dup	7428	VHL	Uncertain significance	2125126052	RCV001930979;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10184616	10184617	10184616	-
NM_000551.4(VHL):c.340+745A>T	7428	VHL	Uncertain significance	-1	RCV003048368;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10184616	10184616	NC_000003.11:g.10184616A>T	-
NM_000551.4(VHL):c.340+746T>C	7428	VHL	Uncertain significance	2125126051	RCV001372197;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10184617	10184617	10184617	-
NM_000551.4(VHL):c.340+747G>A	7428	VHL	Uncertain significance	2125126053	RCV002041531;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10184618	10184618	10184618	-
NM_000551.4(VHL):c.340+748G>A	7428	VHL	Uncertain significance	2125126056	RCV001942767;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10184619	10184619	10184619	-
NM_000551.4(VHL):c.340+753dup	7428	VHL	Uncertain significance	2125126061	RCV001358832;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10184620	10184621	10184620	-
NM_000551.4(VHL):c.340+750G>C	7428	VHL	Uncertain significance	751861959	RCV001307870;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10184621	10184621	10184621	-
NM_000551.4(VHL):c.340+751G>T	7428	VHL	Uncertain significance	1696162976	RCV001212395;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10184622	10184622	3:g.10184622G>T	-
NM_000551.4(VHL):c.340+752G>A	7428	VHL	Uncertain significance	1696163031	RCV001037218;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10184623	10184623	3:g.10184623G>A	-
NM_000551.4(VHL):c.340+753G>C	7428	VHL	Uncertain significance	2125126065	RCV001361771;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10184624	10184624	10184624	-
NM_000551.4(VHL):c.340+753G>A	7428	VHL	Uncertain significance	2125126065	RCV002022745;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10184624	10184624	10184624	-
NM_000551.4(VHL):c.340+754T>C	7428	VHL	Uncertain significance	1696163085	RCV001339417;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10184625	10184625	10184625	-
NM_000551.4(VHL):c.340+755del	7428	VHL	Uncertain significance	-1	RCV002685756;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10184625	10184625	NC_000003.11:g.10184626del	-
NM_000551.4(VHL):c.340+754T>A	7428	VHL	Uncertain significance	-1	RCV003035424;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10184625	10184625	NC_000003.11:g.10184625T>A	-
NM_000551.4(VHL):c.340+755T>A	7428	VHL	Uncertain significance	1696163129	RCV001299813;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10184626	10184626	10184626	-
NM_000551.4(VHL):c.340+756G>C	7428	VHL	Uncertain significance	1696163184	RCV001220178;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10184627	10184627	3:g.10184627G>C	-
NM_000551.4(VHL):c.340+756G>T	7428	VHL	Uncertain significance	1696163184	RCV001896258;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10184627	10184627	10184627	-
NM_000551.4(VHL):c.340+758G>A	7428	VHL	Uncertain significance	2125126071	RCV001896047;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10184629	10184629	10184629	-
NM_000551.4(VHL):c.340+759G>A	7428	VHL	Uncertain significance	-1	RCV003054555;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10184630	10184630	NC_000003.11:g.10184630G>A	-
NM_000551.4(VHL):c.340+760T>C	7428	VHL	Uncertain significance	1696163288	RCV001210324;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10184631	10184631	3:g.10184631T>C	-
NM_000551.4(VHL):c.340+761T>C	7428	VHL	Uncertain significance	-1	RCV003039245;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10184632	10184632	NC_000003.11:g.10184632T>C	-
NM_000551.4(VHL):c.340+762G>A	7428	VHL	Uncertain significance	1696163332	RCV001325920;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10184633	10184633	10184633	-
NM_000551.4(VHL):c.340+763T>C	7428	VHL	Uncertain significance	1696163399	RCV001317463;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10184634	10184634	10184634	-
NM_000551.4(VHL):c.340+766G>A	7428	VHL	Uncertain significance	-1	RCV002720868;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10184637	10184637	NC_000003.11:g.10184637G>A	-
NM_000551.4(VHL):c.340+767G>C	7428	VHL	Uncertain significance	1696163478	RCV001900673;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10184638	10184638	10184638	-
NM_000551.4(VHL):c.340+770T>C	7428	VHL	Conflicting interpretations of pathogenicity	1346312258	RCV001007626\|RCV001238805\|RCV003320779\|RCV003325984;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MedGen:CN169374\|	3	10184641	10184641	3:g.10184641T>C	OMIM:608537.0030
NM_000551.4(VHL):c.340+770T>A	7428	VHL	Uncertain significance	1346312258	RCV001052187;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10184641	10184641	3:g.10184641T>A	-
NM_000551.4(VHL):c.340+771C>T	7428	VHL	Uncertain significance	-1	RCV002829732;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10184642	10184642	NC_000003.11:g.10184642C>T	-
NM_000551.4(VHL):c.340+777A>G	7428	VHL	Uncertain significance	2125126081	RCV001952766;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10184648	10184648	10184648	-
NM_000551.4(VHL):c.340+779G>C	7428	VHL	Uncertain significance	1696163737	RCV001343583;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10184650	10184650	10184650	-
NM_000551.4(VHL):c.340+779G>A	7428	VHL	Uncertain significance	1696163737	RCV001963962;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10184650	10184650	10184650	-
NM_000551.4(VHL):c.340+781G>A	7428	VHL	Uncertain significance	2125126088	RCV002094974;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10184652	10184652	10184652	-
NM_000551.4(VHL):c.340+784C>T	7428	VHL	Uncertain significance	1696163787	RCV001053801;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10184655	10184655	3:g.10184655C>T	-
NM_000551.4(VHL):c.340+787C>A	7428	VHL	Uncertain significance	2125126091	RCV001956887;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10184658	10184658	10184658	-
NM_000551.4(VHL):c.340+787C>T	7428	VHL	Uncertain significance	2125126091	RCV001999564;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10184658	10184658	10184658	-
NM_000551.4(VHL):c.340+789del	7428	VHL	Uncertain significance	-1	RCV002880270;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10184658	10184658	NC_000003.11:g.10184660del	-
NM_000551.4(VHL):c.340+788C>G	7428	VHL	Uncertain significance	1282958900	RCV001062788;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10184659	10184659	3:g.10184659C>G	-
NM_000551.4(VHL):c.340+789C>T	7428	VHL	Uncertain significance	1241756327	RCV001203476;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10184660	10184660	3:g.10184660C>T	-
NM_000551.4(VHL):c.340+789C>G	7428	VHL	Likely benign	1241756327	RCV001936407;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10184660	10184660	10184660	-
NM_000551.4(VHL):c.340+790G>A	7428	VHL	Likely benign	527534541	RCV001045173;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10184661	10184661	3:g.10184661G>A	-
NM_000551.4(VHL):c.340+790G>T	7428	VHL	Uncertain significance	527534541	RCV001878792;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10184661	10184661	10184661	-
NM_000551.4(VHL):c.340+791G>A	7428	VHL	Likely benign	903894625	RCV001059851;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10184662	10184662	3:g.10184662G>A	-
NM_000551.4(VHL):c.340+793G>A	7428	VHL	Uncertain significance	2125126106	RCV001934124;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10184664	10184664	10184664	-
NM_000551.4(VHL):c.340+795del	7428	VHL	Uncertain significance	-1	RCV002828646;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10184665	10184665	NC_000003.11:g.10184666del	-
NM_000551.4(VHL):c.340+795A>G	7428	VHL	Uncertain significance	1696164115	RCV001313585;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10184666	10184666	10184666	-
NM_000551.4(VHL):c.340+797G>T	7428	VHL	Uncertain significance	1696164222	RCV001061995;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10184668	10184668	3:g.10184668G>T	-
NM_000551.4(VHL):c.340+797G>C	7428	VHL	Uncertain significance	1696164222	RCV001896962;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10184668	10184668	10184668	-
NM_000551.4(VHL):c.340+798A>C	7428	VHL	Uncertain significance	-1	RCV002993803;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10184669	10184669	NC_000003.11:g.10184669A>C	-
NM_000551.4(VHL):c.340+799AG[2]	7428	VHL	Uncertain significance	1312220751	RCV001327143;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10184670	10184671	10184669	-
NM_000551.4(VHL):c.340+800G>A	7428	VHL	Uncertain significance	999509680	RCV001055734;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10184671	10184671	3:g.10184671G>A	-
NM_000551.4(VHL):c.340+803A>G	7428	VHL	Likely benign	2125126112	RCV001872900;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10184674	10184674	10184674	-
NM_000551.4(VHL):c.340+804G>C	7428	VHL	Uncertain significance	1696164389	RCV001359121;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10184675	10184675	10184675	-
NM_000551.4(VHL):c.340+805C>G	7428	VHL	Uncertain significance	1696164445	RCV001363927;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10184676	10184676	10184676	-
NM_000551.4(VHL):c.340+806A>T	7428	VHL	Uncertain significance	1696164489	RCV001226992;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10184677	10184677	3:g.10184677A>T	-
NM_000551.4(VHL):c.340+808_340+809dup	7428	VHL	Uncertain significance	2125126119	RCV001903285;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10184678	10184679	10184678	-
NM_000551.4(VHL):c.340+808G>A	7428	VHL	Uncertain significance	1696164529	RCV001219371;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10184679	10184679	3:g.10184679G>A	-
NM_000551.4(VHL):c.340+809A>G	7428	VHL	Likely benign	1377166151	RCV001033979;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10184680	10184680	3:g.10184680A>G	-
NM_000551.4(VHL):c.340+809A>T	7428	VHL	Uncertain significance	1377166151	RCV001863760;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10184680	10184680	10184680	-
NM_000551.4(VHL):c.340+811G>C	7428	VHL	Uncertain significance	1174101376	RCV001227700;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10184682	10184682	3:g.10184682G>C	-
NM_000551.4(VHL):c.340+811G>A	7428	VHL	Uncertain significance	1174101376	RCV001303807;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10184682	10184682	10184682	-
NM_000551.4(VHL):c.340+812G>C	7428	VHL	Uncertain significance	1696164675	RCV001223902;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10184683	10184683	3:g.10184683G>C	-
NM_000551.4(VHL):c.340+813A>T	7428	VHL	Uncertain significance	2125126124	RCV001894396;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10184684	10184684	10184684	-
NM_000551.4(VHL):c.340+814G>T	7428	VHL	Uncertain significance	1696164726	RCV001211028;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10184685	10184685	3:g.10184685G>T	-
NM_000551.4(VHL):c.340+814G>A	7428	VHL	Uncertain significance	1696164726	RCV001978952;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10184685	10184685	10184685	-
NM_000551.4(VHL):c.340+815dup	7428	VHL	Uncertain significance	-1	RCV003042114;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10184685	10184686	NC_000003.11:g.10184686dup	-
NM_000551.4(VHL):c.340+816A>C	7428	VHL	Uncertain significance	1031288121	RCV001050041\|RCV003325989;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10184687	10184687	3:g.10184687A>C	-
NM_000551.4(VHL):c.340+818G>A	7428	VHL	Uncertain significance	960959316	RCV001048580;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10184689	10184689	3:g.10184689G>A	-
NM_000551.4(VHL):c.340+819A>G	7428	VHL	Uncertain significance	1696164925	RCV001226439;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10184690	10184690	3:g.10184690A>G	-
NM_000551.4(VHL):c.340+821C>G	7428	VHL	Likely benign	552399136	RCV001246325;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10184692	10184692	3:g.10184692C>G	-
NM_000551.4(VHL):c.340+825_340+834del	7428	VHL	Uncertain significance	2125126131	RCV002028080;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10184692	10184701	10184691	-
NM_000551.4(VHL):c.340+821C>T	7428	VHL	Uncertain significance	-1	RCV002898743;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10184692	10184692	NC_000003.11:g.10184692C>T	-
NM_000551.4(VHL):c.340+822T>G	7428	VHL	Uncertain significance	2125126133	RCV001889994;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10184693	10184693	10184693	-
NM_000551.4(VHL):c.340+824G>A	7428	VHL	Uncertain significance	1349420435	RCV001312544;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10184695	10184695	10184695	-
NM_000551.4(VHL):c.340+825C>G	7428	VHL	Uncertain significance	1156980093	RCV001065333;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10184696	10184696	3:g.10184696C>G	-
NM_000551.4(VHL):c.340+825C>A	7428	VHL	Uncertain significance	1156980093	RCV001348478;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10184696	10184696	10184696	-
NM_000551.4(VHL):c.340+825C>T	7428	VHL	Uncertain significance	1156980093	RCV001341042;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10184696	10184696	10184696	-
NM_000551.4(VHL):c.340+826C>T	7428	VHL	Uncertain significance	2125126135	RCV001911560;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10184697	10184697	10184697	-
NM_000551.4(VHL):c.340+827A>G	7428	VHL	Uncertain significance	2125126136	RCV001989506;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10184698	10184698	10184698	-
NM_000551.4(VHL):c.340+828A>G	7428	VHL	Uncertain significance	570619659	RCV001068575;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10184699	10184699	3:g.10184699A>G	-
NM_000551.4(VHL):c.340+828A>T	7428	VHL	Uncertain significance	570619659	RCV001320045;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10184699	10184699	10184699	-
NM_000551.4(VHL):c.340+829C>T	7428	VHL	Uncertain significance	907291243	RCV001243667;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10184700	10184700	3:g.10184700C>T	-
NM_000551.4(VHL):c.340+830C>T	7428	VHL	Uncertain significance	1696165307	RCV001245224;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10184701	10184701	3:g.10184701C>T	-
NM_000551.4(VHL):c.340+830C>G	7428	VHL	Uncertain significance	1696165307	RCV001910038;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10184701	10184701	10184701	-
NM_000551.4(VHL):c.340+831C>T	7428	VHL	Uncertain significance	1696165357	RCV001223764;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10184702	10184702	3:g.10184702C>T	-
NM_000551.4(VHL):c.340+831C>A	7428	VHL	Uncertain significance	1696165357	RCV001368394;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10184702	10184702	10184702	-
NM_000551.4(VHL):c.340+831C>G	7428	VHL	Uncertain significance	1696165357	RCV001983370;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10184702	10184702	10184702	-
NM_000551.4(VHL):c.340+832T>C	7428	VHL	Uncertain significance	1696165411	RCV001348216\|RCV003169706;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10184703	10184703	10184703	-
NM_000551.4(VHL):c.340+832T>G	7428	VHL	Uncertain significance	1696165411	RCV002026324;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10184703	10184703	10184703	-
NM_000551.4(VHL):c.340+833A>T	7428	VHL	Uncertain significance	2125126148	RCV001960142;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10184704	10184704	10184704	-
NM_000551.4(VHL):c.340+837A>G	7428	VHL	Benign	190906863	RCV001521640;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10184708	10184708	10184708	-
NM_000551.4(VHL):c.340+837A>T	7428	VHL	Uncertain significance	190906863	RCV001924924;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10184708	10184708	10184708	-
NM_000551.4(VHL):c.340+994_*2333del	7428	VHL	Pathogenic	-1	RCV001293281;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10184863	10193980	10184862	-
NM_000551.4(VHL):c.340+1019_463+450del	7428	VHL	Pathogenic	-1	RCV001293282;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10184883	10188763	10184882	-
NM_000551.4(VHL):c.340+1543_464-1191del	7428	VHL	Pathogenic	-1	RCV001293283;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10185381	10190247	10185380	-
NM_000551.4(VHL):c.340+1580_464-1477del	7428	VHL	Pathogenic	-1	RCV001293284;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10185451	10189994	10185450	-
NM_000551.4(VHL):c.341-1857_464-1328del	7428	VHL	Pathogenic	-1	RCV001293285;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10186337	10190139	10186336	-
NM_000551.4(VHL):c.341-1583_464-1477del	7428	VHL	Pathogenic	-1	RCV001293286;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10186615	10189994	10186614	-
NM_000551.4(VHL):c.341-1406_*3377del	7428	VHL	Pathogenic	-1	RCV001293287;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10186788	10195022	10186787	-
NM_000551.4(VHL):c.341-1382_*3401del	7428	VHL	Pathogenic	-1	RCV001293288;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10186803	10195037	10186802	-
NM_000551.4(VHL):c.341-951_464-1018del	7428	VHL	Pathogenic	-1	RCV001293289;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10187244	10190450	10187243	-
NM_000551.4(VHL):c.341-929_*3191del	7428	VHL	Pathogenic	-1	RCV001293290;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10187264	10194835	10187263	-
NM_000551.4(VHL):c.341-279_464-614del	7428	VHL	Pathogenic	-1	RCV001293291;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10187905	10190843	10187904	-
NC_000003.11:g.10188005_10207561del	7428	VHL	Pathogenic	-1	RCV001293308;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10188005	10207561	-1	-
NM_000551.4(VHL):c.341-49_*2815del	7428	VHL	Pathogenic	-1	RCV001293309;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10188142	10194457	10188141	-
NM_000551.4(VHL):c.341-25_370dup	7428	VHL	Conflicting interpretations of pathogenicity	1553619923	RCV000465422\|RCV000767258\|RCV002451139;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10188172	10188173	NC_000003.11:g.10188173_10188227dup	ClinGen:CA040509	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.341-21_341-17del	7428	VHL	Likely benign	869025639	RCV000208857;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10188177	10188181	NC_000003.11:g.10188177_10188181del	ClinGen:CA357124	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.341-15T>C	7428	VHL	Likely benign	2125128176	RCV002075895;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10188183	10188183	10188183	-
NM_000551.4(VHL):c.341-14G>A	7428	VHL	Likely benign	1696259908	RCV002160735;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10188184	10188184	10188184	-
NM_000551.4(VHL):c.341-12T>C	7428	VHL	Uncertain significance	-1	RCV002756791;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10188186	10188186	NC_000003.11:g.10188186T>C	-
NM_000551.4(VHL):c.341-11T>A	7428	VHL	Pathogenic	2125128187	RCV001956145;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10188187	10188187	10188187	-
NM_000551.4(VHL):c.341-11T>G	7428	VHL	Likely benign	2125128187	RCV002137982;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10188187	10188187	10188187	-
NM_000551.4(VHL):c.341-10G>C	7428	VHL	Likely benign	140064807	RCV000528445\|RCV001722459\|RCV003316682;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MedGen:C3661900\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10188188	10188188	3:g.10188188G>C	ClinGen:CA040462	C1837915 263400 Erythrocytosis, familial, 2;
NC_000003.11:g.(?_10188188)_(10188330_?)dup	7428	VHL	Uncertain significance	-1	RCV000708333;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10188188	10188330		-	C1837915 263400 Erythrocytosis, familial, 2;
NC_000003.12:g.(?_10146504)_(10146646_?)del	7428	VHL	Pathogenic	-1	RCV000817280;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10188188	10188330		-
NC_000003.12:g.(?_10146504)_(10149975_?)del	7428	VHL	Pathogenic	-1	RCV000816631;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10188188	10191659		-
NC_000003.12:g.(?_10146504)_(10149975_?)dup	7428	VHL	Uncertain significance	-1	RCV001031076;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10188188	10191659	-1	-
NM_000551.4(VHL):c.341-8C>G	7428	VHL	Uncertain significance	1272767361	RCV000631265;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10188190	10188190	NC_000003.11:g.10188190C>G	ClinGen:CA658795339	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.341-8C>T	7428	VHL	Likely benign	1272767361	RCV001398528;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10188190	10188190	10188190	-
NM_000551.4(VHL):c.341-7C>T	7428	VHL	Likely benign	1308495590	RCV002129070;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10188191	10188191	10188191	-
NM_000551.4(VHL):c.341-6C>T	7428	VHL	Benign/Likely benign	191201783	RCV000411075\|RCV000422611\|RCV000464360\|RCV001821137\|RCV002256226;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MedGen:C3661900\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557\|MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,Me	3	10188192	10188192	NC_000003.11:g.10188192C>T	ClinGen:CA040631	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.341-6C>G	7428	VHL	Uncertain significance	191201783	RCV000802303\|RCV002245675;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10188192	10188192	3:g.10188192C>G	-
NM_000551.4(VHL):c.341-5G>A	7428	VHL	Likely benign	372340900	RCV000442110\|RCV000476495\|RCV001020243\|RCV001143972;	N	MedGen:CN169374\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300	3	10188193	10188193	3:g.10188193G>A	ClinGen:CA040622	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.341-5G>T	7428	VHL	Uncertain significance	372340900	RCV000688058;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10188193	10188193	NC_000003.11:g.10188193G>T	-	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.341-5del	7428	VHL	Uncertain significance	2125128198	RCV001995643;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10188193	10188193	10188192	-
NM_000551.4(VHL):c.341-5G>C	7428	VHL	Likely benign	-1	RCV002627104;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10188193	10188193	NC_000003.11:g.10188193G>C	-
NM_000551.4(VHL):c.341-4A>T	7428	VHL	Conflicting interpretations of pathogenicity	1559428033	RCV000679033\|RCV001442130\|RCV002458187;	N	MedGen:C3661900\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10188194	10188194	NC_000003.11:g.10188194A>T	-	CN517202 not provided;
NM_000551.4(VHL):c.341-3T>G	7428	VHL	Conflicting interpretations of pathogenicity	1131690965	RCV000492211\|RCV000767259;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10188195	10188195	NC_000003.11:g.10188195T>G	ClinGen:CA16020704	C0027672 Hereditary cancer-predisposing syndrome;
NM_000551.4(VHL):c.341-2A>G	7428	VHL	Pathogenic	869025637	RCV000208784\|RCV001034627;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10188196	10188196	3:g.10188196A>G	ClinGen:CA357004	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.341-1_342dup	7428	VHL	Uncertain significance	1696260542	RCV001071279;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10188196	10188197	3:g.10188196_10188197insGGT	-
NM_000551.4(VHL):c.341-2A>T	7428	VHL	Pathogenic	-1	RCV002877178\|RCV003455591;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10188196	10188196	NC_000003.11:g.10188196A>T	-
NM_198156.3(VHL):c.341-3273del	7428	VHL	Pathogenic	869025638	RCV000208824;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10188197	10188197	3:g.10188197_10188197del	ClinGen:CA357071	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.341-1G>A	7428	VHL	Pathogenic	1575927648	RCV001020234\|RCV003447574\|RCV003467657;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10188197	10188197	3:g.10188197G>A	-
NM_000551.4(VHL):c.341-1G>T	7428	VHL	Pathogenic	-1	RCV003452624;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10188197	10188197		-
NC_000003.12:g.(?_10146514)_(10146636_?)del	7428	VHL	Pathogenic	-1	RCV000456791;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10188198	10188320		-	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.346dup (p.Leu116fs)	7428	VHL	Pathogenic	1559428051	RCV000767260;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10188201	10188202	NC_000003.11:g.10188203dup	-
NM_000551.4(VHL):c.344A>G (p.His115Arg)	7428	VHL	Pathogenic/Likely pathogenic	5030812	RCV000822511\|RCV003169035;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10188201	10188201	3:g.10188201A>G	-
NM_000551.4(VHL):c.345C>T (p.His115=)	7428	VHL	Likely benign	864622646	RCV000204312\|RCV000858711\|RCV002336566;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10188202	10188202	NC_000003.11:g.10188202C>T	ClinGen:CA348562	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.345C>A (p.His115Gln)	7428	VHL	Pathogenic/Likely pathogenic	864622646	RCV000588324\|RCV001044333;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10188202	10188202	NC_000003.11:g.10188202C>A	ClinGen:CA351753631	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.347T>G (p.Leu116Arg)	7428	VHL	Uncertain significance	879254230	RCV000236337\|RCV000818505\|RCV002450737;	N	MedGen:C3661900\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10188204	10188204	3:g.10188204T>G	ClinGen:CA10584229	CN169374 not specified;
NM_000551.4(VHL):c.349T>G (p.Trp117Gly)	7428	VHL	Pathogenic	1696261074	RCV001069048;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10188206	10188206	3:g.10188206T>G	-
NM_000551.4(VHL):c.349T>C (p.Trp117Arg)	7428	VHL	Pathogenic	-1	RCV003017971;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10188206	10188206	NC_000003.11:g.10188206T>C	-
NM_000551.4(VHL):c.351del (p.Trp117fs)	7428	VHL	Pathogenic	869025640	RCV000208786;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10188207	10188207	3:g.10188207_10188207del	ClinGen:CA357005	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.350G>A (p.Trp117Ter)	7428	VHL	Pathogenic	1559428056	RCV000767261;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10188207	10188207	NC_000003.11:g.10188207G>A	-
NM_000551.4(VHL):c.351G>T (p.Trp117Cys)	7428	VHL	Pathogenic	727504215	RCV000154124\|RCV000723964\|RCV001020510;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10188208	10188208	3:g.10188208G>T	ClinGen:CA020294,UniProtKB:P40337#VAR_005725	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.352_353insA (p.Leu118fs)	7428	VHL	Pathogenic	869025641	RCV000208858\|RCV001221660\|RCV001589101;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MedGen:CN517202	3	10188209	10188210	3:g.10188209_10188210insA	ClinGen:CA357125	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.353T>C (p.Leu118Pro)	7428	VHL	Pathogenic	5030830	RCV000492175\|RCV000801496\|RCV001702663;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MedGen:C3661900	3	10188210	10188210	3:g.10188210T>C	ClinGen:CA70049399	C0027672 Hereditary cancer-predisposing syndrome;
NM_000551.4(VHL):c.353T>G (p.Leu118Arg)	7428	VHL	Pathogenic	5030830	RCV000492280\|RCV003233031;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10188210	10188210	NC_000003.11:g.10188210T>G	ClinGen:CA351753694	C0027672 Hereditary cancer-predisposing syndrome;
NM_000551.4(VHL):c.354C>T (p.Leu118=)	7428	VHL	Conflicting interpretations of pathogenicity	1051892430	RCV001411728\|RCV003160644;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10188211	10188211	10188211	-
NM_000551.4(VHL):c.355T>C (p.Phe119Leu)	7428	VHL	Pathogenic	1553619948	RCV000588483\|RCV000631289\|RCV002456285;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10188212	10188212	NC_000003.11:g.10188212T>C	ClinGen:CA351753707	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.356T>G (p.Phe119Cys)	7428	VHL	Uncertain significance	2125128254	RCV001908466;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10188213	10188213	10188213	-
NM_000551.4(VHL):c.357C>G (p.Phe119Leu)	7428	VHL	Pathogenic	1559428077	RCV000767262\|RCV000821822\|RCV002458373;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10188214	10188214	NC_000003.11:g.10188214C>G	-
NM_000551.4(VHL):c.357C>T (p.Phe119=)	7428	VHL	Likely benign	1559428077	RCV001430668;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10188214	10188214	10188214	-
NM_000551.4(VHL):c.358A>G (p.Arg120Gly)	7428	VHL	Likely pathogenic	869025642	RCV000208800\|RCV001379374\|RCV001701790;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MedGen:CN517202	3	10188215	10188215	NC_000003.11:g.10188215A>G	ClinGen:CA357028	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.361G>A (p.Asp121Asn)	7428	VHL	Pathogenic	-1	RCV002651639;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10188218	10188218	NC_000003.11:g.10188218G>A	-
NM_000551.4(VHL):c.362A>G (p.Asp121Gly)	7428	VHL	Pathogenic/Likely pathogenic	5030832	RCV000208830\|RCV000679035\|RCV000801501;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MedGen:CN517202\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10188219	10188219	3:g.10188219A>G	ClinGen:CA357083,UniProtKB:P40337#VAR_005730	CN517202 not provided;
NM_000551.4(VHL):c.363dup (p.Ala122fs)	7428	VHL	Pathogenic	1575927767	RCV001020780\|RCV001216349;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10188219	10188220	3:g.10188219_10188220insT	-
NM_000551.4(VHL):c.362A>T (p.Asp121Val)	7428	VHL	Likely pathogenic	5030832	RCV001221169;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10188219	10188219	3:g.10188219A>T	-
NM_000551.4(VHL):c.363del (p.Asp121fs)	7428	VHL	Pathogenic	2125128271	RCV001533187;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10188220	10188220	10188219	-
NM_000551.4(VHL):c.364G>T (p.Ala122Ser)	7428	VHL	Uncertain significance	1064793291	RCV000479431\|RCV001036041;	N	MedGen:CN517202\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10188221	10188221	3:g.10188221G>T	ClinGen:CA16617788	CN169374 not specified;
NM_000551.4(VHL):c.364G>A (p.Ala122Thr)	7428	VHL	Uncertain significance	1064793291	RCV000564632\|RCV001858145;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10188221	10188221	NC_000003.11:g.10188221G>A	ClinGen:CA351753762	C0027672 Hereditary cancer-predisposing syndrome;
NM_000551.4(VHL):c.365C>G (p.Ala122Gly)	7428	VHL	Uncertain significance	1696261924	RCV001067824;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10188222	10188222	3:g.10188222C>G	-
NM_000551.4(VHL):c.365C>T (p.Ala122Val)	7428	VHL	Conflicting interpretations of pathogenicity	1696261924	RCV001327637\|RCV002456464;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10188222	10188222	10188222	-
NM_000551.4(VHL):c.365C>A (p.Ala122Glu)	7428	VHL	Uncertain significance	-1	RCV002452533\|RCV003094283;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10188222	10188222	10188222	-
NM_000551.4(VHL):c.366A>G (p.Ala122=)	7428	VHL	Likely benign	1474241640	RCV000615503\|RCV000631302\|RCV002456332;	N	MedGen:CN169374\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10188223	10188223	3:g.10188223A>G	ClinGen:CA432421808	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.366A>C (p.Ala122=)	7428	VHL	Likely benign	1474241640	RCV001407810\|RCV002454090;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10188223	10188223	3:g.10188223A>C	-
NM_000551.4(VHL):c.374_375del (p.His125fs)	7428	VHL	Pathogenic	869025644	RCV000208802\|RCV000687965;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10188227	10188228	3:g.10188227_10188228del	ClinGen:CA357032	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.370A>G (p.Thr124Ala)	7428	VHL	Conflicting interpretations of pathogenicity	1559428091	RCV000707189\|RCV001759423;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MedGen:CN517202	3	10188227	10188227	NC_000003.11:g.10188227A>G	-	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.371C>T (p.Thr124Ile)	7428	VHL	Likely pathogenic	193922610	RCV000030585\|RCV000679036;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MedGen:CN517202	3	10188228	10188228	3:g.10188228C>T	ClinGen:CA020308	CN517202 not provided;
NM_000551.4(VHL):c.373C>T (p.His125Tyr)	7428	VHL	Conflicting interpretations of pathogenicity	375401722	RCV000462284\|RCV000479517\|RCV000708764\|RCV002272247\|RCV002489086;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300	3	10188230	10188230	NC_000003.11:g.10188230C>T	ClinGen:CA040676	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.374A>C (p.His125Pro)	7428	VHL	Pathogenic	869025643	RCV000208860;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10188231	10188231	NC_000003.11:g.10188231A>C	ClinGen:CA357127	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.375C>T (p.His125=)	7428	VHL	Likely benign	863224372	RCV000198597\|RCV000859569\|RCV001697274\|RCV002257497;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Or	3	10188232	10188232	NC_000003.11:g.10188232C>T	ClinGen:CA338024	CN169374 not specified;
NM_000551.4(VHL):c.377_379dup (p.Asp126dup)	7428	VHL	Uncertain significance	1696262591	RCV001216308;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10188232	10188233	3:g.10188232_10188233insGAT	-
NM_000551.4(VHL):c.376G>T (p.Asp126Tyr)	7428	VHL	Likely pathogenic	104893831	RCV000002318\|RCV001236092;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10188233	10188233	3:g.10188233G>T	ClinGen:CA020319,UniProtKB:P40337#VAR_034994,OMIM:608537.0022	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.376G>A (p.Asp126Asn)	7428	VHL	Conflicting interpretations of pathogenicity	104893831	RCV000129380\|RCV000631273\|RCV000679037\|RCV000663314\|RCV001007623\|RCV003155081;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MedGen:C3661900\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300	3	10188233	10188233	3:g.10188233G>A	ClinGen:CA020313,OMIM:608537.0028	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.376G>C (p.Asp126His)	7428	VHL	Uncertain significance	104893831	RCV000631278\|RCV001766342;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MedGen:CN517202	3	10188233	10188233	3:g.10188233G>C	ClinGen:CA351753833	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.376_382delinsAA (p.Asp126fs)	7428	VHL	Pathogenic	1696262643	RCV001248335;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10188233	10188239	3:g.10188234_10188239del	-
NM_000551.4(VHL):c.377A>G (p.Asp126Gly)	7428	VHL	Conflicting interpretations of pathogenicity	1354593943	RCV000553383\|RCV001021117\|RCV001764530;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	3	10188234	10188234	3:g.10188234A>G	ClinGen:CA351753841	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.377del (p.Asp126fs)	7428	VHL	Pathogenic	1553619952	RCV000528640\|RCV001384431;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10188234	10188234	3:g.10188234_10188234del	ClinGen:CA658655750	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.379_380insCAG (p.Asp126_Gly127insAla)	7428	VHL	Uncertain significance	1559428103	RCV000701611;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10188235	10188236	3:g.10188235_10188236insGCA	-	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.381del (p.Leu128fs)	7428	VHL	Pathogenic	1559428107	RCV000767263;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10188236	10188236	NC_000003.11:g.10188238del	-
NM_000551.4(VHL):c.381_382delinsTT (p.Leu128Phe)	7428	VHL	Likely pathogenic	869025645	RCV000208832;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10188238	10188239	NC_000003.11:g.10188238_10188239delinsTT	ClinGen:CA357088	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.382C>T (p.Leu128Phe)	7428	VHL	Uncertain significance	1553619956	RCV000586899\|RCV001232610;	N	MedGen:CN517202\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10188239	10188239	NC_000003.11:g.10188239C>T	ClinGen:CA351753886	CN517202 not provided;
NM_000551.4(VHL):c.383T>C (p.Leu128Pro)	7428	VHL	Pathogenic/Likely pathogenic	2125128327	RCV001577269\|RCV002359188\|RCV003316842;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10188240	10188240	10188240	-
NM_000551.4(VHL):c.385C>T (p.Leu129=)	7428	VHL	Conflicting interpretations of pathogenicity	369018004	RCV000546965\|RCV002358438;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10188242	10188242	3:g.10188242C>T	ClinGen:CA040752	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.385C>G (p.Leu129Val)	7428	VHL	Conflicting interpretations of pathogenicity	369018004	RCV000568082\|RCV000707457\|RCV003441963;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557\|MedGen:C3661900	3	10188242	10188242	NC_000003.11:g.10188242C>G	ClinGen:CA040734	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.386T>C (p.Leu129Pro)	7428	VHL	Conflicting interpretations of pathogenicity	1559428119	RCV000767264\|RCV001855962;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10188243	10188243	NC_000003.11:g.10188243T>C	-
NM_000551.4(VHL):c.387G>T (p.Leu129=)	7428	VHL	Likely benign	778846471	RCV000205746\|RCV000708635\|RCV001705166;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	3	10188244	10188244	NC_000003.11:g.10188244G>T	ClinGen:CA040764	C0027672 Hereditary cancer-predisposing syndrome;
NM_000551.4(VHL):c.387G>C (p.Leu129=)	7428	VHL	Likely benign	778846471	RCV001480549;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10188244	10188244	3:g.10188244G>C	-
NM_000551.4(VHL):c.388G>C (p.Val130Leu)	7428	VHL	Pathogenic	104893830	RCV000002317\|RCV000030586\|RCV000492250\|RCV001071915;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10188245	10188245	3:g.10188245G>C	ClinGen:CA020325,UniProtKB:P40337#VAR_005733,OMIM:608537.0021	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.388G>T (p.Val130Phe)	7428	VHL	Conflicting interpretations of pathogenicity	104893830	RCV000588434;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10188245	10188245	NC_000003.11:g.10188245G>T	ClinGen:CA351753913	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.388G>A (p.Val130Ile)	7428	VHL	Conflicting interpretations of pathogenicity	-1	RCV002357396\|RCV003102470;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10188245	10188245	10188245	-
NM_000551.4(VHL):c.391A>T (p.Asn131Tyr)	7428	VHL	Likely pathogenic	2125128340	RCV002034406;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10188248	10188248	10188248	-
NM_000551.4(VHL):c.392A>G (p.Asn131Ser)	7428	VHL	Pathogenic/Likely pathogenic	1553619963	RCV000590750\|RCV002225684\|RCV002530908;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MedGen:CN517202\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10188249	10188249	NC_000003.11:g.10188249A>G	ClinGen:CA351753941	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.393_394dup (p.Gln132fs)	7428	VHL	Pathogenic	1559428128	RCV000767265;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10188249	10188250	NC_000003.11:g.10188250_10188251dup	-
NM_000551.4(VHL):c.393C>A (p.Asn131Lys)	7428	VHL	Conflicting interpretations of pathogenicity	1064794272	RCV000482784\|RCV002525827;	N	MedGen:CN517202\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10188250	10188250	3:g.10188250C>A	ClinGen:CA16617789	CN517202 not provided;
NM_000551.4(VHL):c.394C>T (p.Gln132Ter)	7428	VHL	Pathogenic	5030813	RCV000404768\|RCV000767266\|RCV001859684;	N	MedGen:CN517202\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10188251	10188251	3:g.10188251C>T	ClinGen:CA10606205	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.395A>C (p.Gln132Pro)	7428	VHL	Pathogenic/Likely pathogenic	1347416980	RCV000589183\|RCV002377215;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10188252	10188252	NC_000003.11:g.10188252A>C	ClinGen:CA351753958	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.397del (p.Thr133fs)	7428	VHL	Pathogenic	1559428134	RCV000767267;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10188252	10188252	NC_000003.11:g.10188254del	-
NM_000551.4(VHL):c.398C>T (p.Thr133Ile)	7428	VHL	Uncertain significance	1060503565	RCV000473892\|RCV002475890\|RCV003298508;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0007763,MedGen:CN074294,OMIM:144700, Orphanet:422526;	3	10188255	10188255	NC_000003.11:g.10188255C>T	ClinGen:CA16611091	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.400G>T (p.Glu134Ter)	7428	VHL	Pathogenic	2125128363	RCV001381653;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10188257	10188257	10188257	-
NM_000551.4(VHL):c.402del (p.Glu134fs)	7428	VHL	Pathogenic	869025646	RCV000208816;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10188258	10188258	3:g.10188258_10188258del	ClinGen:CA357054	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.402A>G (p.Glu134=)	7428	VHL	Likely benign	201482330	RCV000552446;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10188259	10188259	3:g.10188259A>G	ClinGen:CA70049484	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.405A>C (p.Leu135Phe)	7428	VHL	Pathogenic	119103278	RCV000002307;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10188262	10188262	3:g.10188262A>C	ClinGen:CA020338,UniProtKB:P40337#VAR_034995,OMIM:608537.0008	C1332900 Cerebellar hemangioblastoma;
NM_000551.4(VHL):c.408del (p.Phe136fs)	7428	VHL	Pathogenic	397516442	RCV000036544\|RCV000679039;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MedGen:CN517202	3	10188263	10188263	3:g.10188263_10188263del	ClinGen:CA020343	CN517202 not provided;
NM_000551.4(VHL):c.407T>G (p.Phe136Cys)	7428	VHL	Conflicting interpretations of pathogenicity	5030833	RCV000589290\|RCV000767268;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10188264	10188264	NC_000003.11:g.10188264T>G	ClinGen:CA70049495	C0027672 Hereditary cancer-predisposing syndrome;
NM_000551.4(VHL):c.407T>C (p.Phe136Ser)	7428	VHL	Pathogenic/Likely pathogenic	5030833	RCV000587621\|RCV000679038;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MedGen:CN517202	3	10188264	10188264	3:g.10188264T>C	ClinGen:CA040847	CN517202 not provided;
NM_000551.4(VHL):c.408T>G (p.Phe136Leu)	7428	VHL	Uncertain significance	878854125	RCV000231504\|RCV000563379\|RCV001562617\|RCV002500765;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO	3	10188265	10188265	3:g.10188265T>G	ClinGen:CA10582115	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.411G>C (p.Val137=)	7428	VHL	Likely benign	1553619969	RCV000631306\|RCV002325208;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10188268	10188268	3:g.10188268G>C	ClinGen:CA432421862	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.413del (p.Pro138fs)	7428	VHL	Pathogenic	1559428164	RCV000767269;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10188269	10188269	NC_000003.11:g.10188270del	-
NM_000551.4(VHL):c.413C>T (p.Pro138Leu)	7428	VHL	Uncertain significance	780178275	RCV001007630\|RCV001064218\|RCV001759686;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MedGen:CN517202	3	10188270	10188270	3:g.10188270C>T	OMIM:608537.0035
NM_000551.4(VHL):c.414A>G (p.Pro138=)	7428	VHL	Pathogenic	869025648	RCV000208865\|RCV000216698\|RCV000469600\|RCV001636725;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|Me	3	10188271	10188271	3:g.10188271A>G	ClinGen:CA357138,OMIM:608537.0033	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.419_420del (p.Leu140fs)	7428	VHL	Pathogenic	869025649	RCV000208805\|RCV000631281;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10188272	10188273	NC_000003.11:g.10188272TC[2]	ClinGen:CA357039	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.415T>C (p.Ser139Pro)	7428	VHL	Uncertain significance	1696264596	RCV001318529;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10188272	10188272	10188272	-
NM_000551.4(VHL):c.416C>G (p.Ser139Cys)	7428	VHL	Uncertain significance	587780732	RCV000123107\|RCV000524494\|RCV000679040\|RCV001021981\|RCV003460873;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Or	3	10188273	10188273	3:g.10188273C>G	ClinGen:CA020349	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.416C>T (p.Ser139Phe)	7428	VHL	Uncertain significance	587780732	RCV000196415\|RCV001317982\|RCV003462331;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10188273	10188273	3:g.10188273C>T	ClinGen:CA336394	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.417T>A (p.Ser139=)	7428	VHL	Likely benign	1406004337	RCV002112795\|RCV002331739;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10188274	10188274	10188274	-
NM_000551.4(VHL):c.417T>G (p.Ser139=)	7428	VHL	Likely benign	1406004337	RCV002128606\|RCV002331801;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10188274	10188274	10188274	-
NM_000551.4(VHL):c.418C>T (p.Leu140Phe)	7428	VHL	Uncertain significance	768637170	RCV000631287;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10188275	10188275	3:g.10188275C>T	ClinGen:CA351754113	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.418C>G (p.Leu140Val)	7428	VHL	Uncertain significance	768637170	RCV001912543\|RCV002331412;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10188275	10188275	10188275	-
NM_000551.4(VHL):c.419_427delinsACAATTATTTGTGCCATCTCTCAA (p.Leu140_Asp143delinsHisAsnTyrLeuCysHisLeu	7428	VHL	Likely pathogenic	1559428180	RCV000767270;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10188276	10188284	NC_000003.11:g.10188276_10188284delinsACAATTATTTGTGCCATCTCTCAA	-
NM_000551.4(VHL):c.420C>A (p.Leu140=)	7428	VHL	Likely benign	369465430	RCV000546043\|RCV001712222\|RCV002328942\|RCV002506032;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO	3	10188277	10188277	3:g.10188277C>A	ClinGen:CA16604420	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.422dup (p.Asn141fs)	7428	VHL	Pathogenic	1553619976	RCV000474557\|RCV000564069;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10188277	10188278	NC_000003.11:g.10188279dup	ClinGen:CA16611276	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.420C>T (p.Leu140=)	7428	VHL	Likely benign	369465430	RCV000925917;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10188277	10188277	3:g.10188277C>T	-
NM_000551.4(VHL):c.421A>C (p.Asn141His)	7428	VHL	Uncertain significance	1696265107	RCV001206608;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10188278	10188278	3:g.10188278A>C	-
NM_000551.4(VHL):c.421A>G (p.Asn141Asp)	7428	VHL	Uncertain significance	1696265107	RCV001211244;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10188278	10188278	3:g.10188278A>G	-
NM_000551.4(VHL):c.422A>G (p.Asn141Ser)	7428	VHL	Uncertain significance	1064796570	RCV000479780\|RCV000570825\|RCV001066733\|RCV002475949\|RCV003470586;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300	3	10188279	10188279	3:g.10188279A>G	ClinGen:CA16617790	C0027672 Hereditary cancer-predisposing syndrome;
NM_000551.4(VHL):c.425T>C (p.Val142Ala)	7428	VHL	Uncertain significance	1553619979	RCV000631266;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10188282	10188282	3:g.10188282T>C	ClinGen:CA351754163	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.425T>G (p.Val142Gly)	7428	VHL	Uncertain significance	-1	RCV002582843;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10188282	10188282	NC_000003.11:g.10188282T>G	-
NM_000551.4(VHL):c.426T>C (p.Val142=)	7428	VHL	Likely benign	143594610	RCV000831341\|RCV001474154\|RCV002487874\|RCV002332737;	N	MedGen:C3661900\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0	3	10188283	10188283	3:g.10188283T>C	-
NM_000551.4(VHL):c.427G>C (p.Asp143His)	7428	VHL	Uncertain significance	372757722	RCV000226491\|RCV000492555\|RCV003228918\|RCV003463662;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400	3	10188284	10188284	3:g.10188284G>C	ClinGen:CA040938	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.429C>T (p.Asp143=)	7428	VHL	Conflicting interpretations of pathogenicity	773556807	RCV000470382\|RCV000564320\|RCV000613763\|RCV002056727;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MedGen:C3661900	3	10188286	10188286	NC_000003.11:g.10188286C>T	ClinGen:CA040956	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.429C>G (p.Asp143Glu)	7428	VHL	Uncertain significance	773556807	RCV000767271;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10188286	10188286	NC_000003.11:g.10188286C>G	-
NM_000551.4(VHL):c.430G>T (p.Gly144Ter)	7428	VHL	Pathogenic	869025650	RCV000208850\|RCV000692586;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10188287	10188287	NC_000003.11:g.10188287G>T	ClinGen:CA357109	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.431del (p.Gly144fs)	7428	VHL	Pathogenic	869025651	RCV000208791;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10188287	10188287	3:g.10188287_10188287del	ClinGen:CA357015	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.430G>C (p.Gly144Arg)	7428	VHL	Uncertain significance	869025650	RCV000631288;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10188287	10188287	3:g.10188287G>C	ClinGen:CA351754199	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.430G>A (p.Gly144Arg)	7428	VHL	Uncertain significance	869025650	RCV000698934\|RCV002477597\|RCV002332473;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072; MONDO:MONDO:0008667,MedGen:C0	3	10188287	10188287	NC_000003.11:g.10188287G>A	-	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.431G>A (p.Gly144Glu)	7428	VHL	Uncertain significance	2125128440	RCV001364536\|RCV003355436;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10188288	10188288	10188288	-
NM_000551.4(VHL):c.433_439del (p.Gln145fs)	7428	VHL	Pathogenic/Likely pathogenic	1559428217	RCV000767272;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10188289	10188295	NC_000003.11:g.10188290_10188296del	-
NM_000551.4(VHL):c.432A>G (p.Gly144=)	7428	VHL	Likely benign	1575928044	RCV001022302\|RCV001398364;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10188289	10188289	3:g.10188289A>G	-
NM_000551.4(VHL):c.433C>T (p.Gln145Ter)	7428	VHL	Pathogenic	749704215	RCV000767273;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10188290	10188290	NC_000003.11:g.10188290C>T	-
NM_000551.4(VHL):c.433C>A (p.Gln145Lys)	7428	VHL	Uncertain significance	749704215	RCV001052394;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10188290	10188290	3:g.10188290C>A	-
NM_000551.4(VHL):c.433C>G (p.Gln145Glu)	7428	VHL	Uncertain significance	749704215	RCV001370050\|RCV002329390;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10188290	10188290	10188290	-
NM_000551.4(VHL):c.434A>T (p.Gln145Leu)	7428	VHL	Uncertain significance	864622313	RCV000203944\|RCV001352159;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10188291	10188291	NC_000003.11:g.10188291A>T	ClinGen:CA348226	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.434A>G (p.Gln145Arg)	7428	VHL	Uncertain significance	-1	RCV003020565;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10188291	10188291	NC_000003.11:g.10188291A>G	-
NM_000551.4(VHL):c.435G>C (p.Gln145His)	7428	VHL	Uncertain significance	771727849	RCV000197591\|RCV002327050;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10188292	10188292	3:g.10188292G>C	ClinGen:CA337322,UniProtKB:P40337#VAR_008100	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.435_436del (p.Gln145fs)	7428	VHL	Pathogenic	869025652	RCV000208807\|RCV000706591;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10188292	10188293	NC_000003.11:g.10188292_10188293del	ClinGen:CA357041	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.437C>T (p.Pro146Leu)	7428	VHL	Uncertain significance	1575928079	RCV000811185;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10188294	10188294	3:g.10188294C>T	-
NM_000551.4(VHL):c.437C>G (p.Pro146Arg)	7428	VHL	Uncertain significance	-1	RCV002333559\|RCV003094668;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10188294	10188294	10188294	-
NM_000551.4(VHL):c.444dup (p.Ala149fs)	7428	VHL	Pathogenic	869025653	RCV000208839;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10188296	10188297	3:g.10188296_10188297insT	ClinGen:CA357097	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.439A>G (p.Ile147Val)	7428	VHL	Uncertain significance	1057517560	RCV000411268\|RCV000455006\|RCV000470728\|RCV000562695\|RCV000657081\|RCV000764459\|RCV003463811;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MedGen:CN169374\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Or	3	10188296	10188296	NC_000003.11:g.10188296A>G	ClinGen:CA16042063	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.444del (p.Phe148fs)	7428	VHL	Pathogenic	869025653	RCV000208793\|RCV001387330;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10188297	10188297	3:g.10188297_10188297del	ClinGen:CA357018	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.440T>C (p.Ile147Thr)	7428	VHL	Uncertain significance	1060503555	RCV000474921\|RCV000479163\|RCV002329078;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10188297	10188297	NC_000003.11:g.10188297T>C	ClinGen:CA16611171	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.445dup (p.Ala149fs)	7428	VHL	Pathogenic	1559428232	RCV000767274;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10188301	10188302	NC_000003.11:g.10188302dup	-
NM_000551.4(VHL):c.444T>C (p.Phe148=)	7428	VHL	Likely benign	-1	RCV003051549;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10188301	10188301		-
NM_000551.4(VHL):c.445G>T (p.Ala149Ser)	7428	VHL	Pathogenic	587780077	RCV000115746\|RCV000208783\|RCV000492260\|RCV001854559;	N	MedGen:C3661900\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Or	3	10188302	10188302	3:g.10188302G>T	ClinGen:CA020355	C0027672 Hereditary cancer-predisposing syndrome;
NM_000551.4(VHL):c.445G>A (p.Ala149Thr)	7428	VHL	Pathogenic	587780077	RCV000208822\|RCV002327073;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10188302	10188302	3:g.10188302G>A	ClinGen:CA357066,UniProtKB:P40337#VAR_005740	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.445G>C (p.Ala149Pro)	7428	VHL	Pathogenic	587780077	RCV000208855\|RCV001853329;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10188302	10188302	3:g.10188302G>C	ClinGen:CA357120	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.446C>T (p.Ala149Val)	7428	VHL	Likely pathogenic	1696266503	RCV001317824;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10188303	10188303	10188303	-
NM_000551.4(VHL):c.447C>T (p.Ala149=)	7428	VHL	Likely benign	2125128479	RCV001447582\|RCV002329509;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10188304	10188304	10188304	-
NM_000551.4(VHL):c.449del (p.Asn150fs)	7428	VHL	Pathogenic/Likely pathogenic	794727253	RCV000175633\|RCV000767275\|RCV000796988;	N	MedGen:CN517202\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10188305	10188305	NC_000003.11:g.10188306del	ClinGen:CA020360	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.448_449del (p.Asn150fs)	7428	VHL	Pathogenic	1696266605	RCV001061553;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10188305	10188306	3:g.10188305_10188306del	-
NM_000551.4(VHL):c.449A>G (p.Asn150Ser)	7428	VHL	Uncertain significance	760184234	RCV000410629\|RCV000483327\|RCV000534480\|RCV002328898\|RCV003114530\|RCV003463812;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MedGen:C3661900\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Or	3	10188306	10188306	NC_000003.11:g.10188306A>G	ClinGen:CA041030	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.450T>C (p.Asn150=)	7428	VHL	Likely benign	-1	RCV002740099;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10188307	10188307		-
NM_000551.4(VHL):c.451A>G (p.Ile151Val)	7428	VHL	Conflicting interpretations of pathogenicity	876659313	RCV001063276\|RCV002290579\|RCV003160518;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10188308	10188308	3:g.10188308A>G	-
NM_000551.4(VHL):c.452T>G (p.Ile151Ser)	7428	VHL	Pathogenic	869025655	RCV000208823;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10188309	10188309	3:g.10188309T>G	ClinGen:CA357068	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.452T>C (p.Ile151Thr)	7428	VHL	Pathogenic	869025655	RCV000492569\|RCV000590238\|RCV000705307\|RCV002287415;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|Hu	3	10188309	10188309	3:g.10188309T>C	ClinGen:CA351754359	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.454_463+17del	7428	VHL	Pathogenic	869025656	RCV000208856;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10188311	10188337	3:g.10188311_10188337del	ClinGen:CA357123	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.456A>G (p.Thr152=)	7428	VHL	Likely benign	-1	RCV002342105\|RCV003094764;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10188313	10188313		-
NM_000551.4(VHL):c.457C>T (p.Leu153=)	7428	VHL	Likely benign	2125128512	RCV002159830;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10188314	10188314	10188314	-
NM_000551.4(VHL):c.458T>A (p.Leu153Gln)	7428	VHL	Conflicting interpretations of pathogenicity	193922611	RCV000030587\|RCV001022748;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10188315	10188315	3:g.10188315T>A	ClinGen:CA020365	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.459G>A (p.Leu153=)	7428	VHL	Likely benign	1382653522	RCV002076315;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10188316	10188316	10188316	-
NM_000551.4(VHL):c.460C>T (p.Pro154Ser)	7428	VHL	Pathogenic/Likely pathogenic	1553619993	RCV000566330\|RCV001046833\|RCV001420952\|RCV003465279;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MO	3	10188317	10188317	3:g.10188317C>T	ClinGen:CA351754405	C0027672 Hereditary cancer-predisposing syndrome;
NM_000551.4(VHL):c.460C>G (p.Pro154Ala)	7428	VHL	Likely pathogenic	1553619993	RCV000631264;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10188317	10188317	NC_000003.11:g.10188317C>G	ClinGen:CA351754403	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.461C>G (p.Pro154Arg)	7428	VHL	Uncertain significance	1399097617	RCV000679041\|RCV000698100\|RCV002334238\|RCV003465545;	N	MedGen:C3661900\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400	3	10188318	10188318	NC_000003.11:g.10188318C>G	-	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.461C>T (p.Pro154Leu)	7428	VHL	Pathogenic	1399097617	RCV000804483\|RCV002336632;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10188318	10188318	3:g.10188318C>T	-
NM_000551.4(VHL):c.462A>G (p.Pro154=)	7428	VHL	Conflicting interpretations of pathogenicity	1060503562	RCV000474447\|RCV003322605\|RCV003317229;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0006279,MedGen:C1708781\|MedGen:CN517202	3	10188319	10188319	NC_000003.11:g.10188319A>G	ClinGen:CA16611069	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.462del (p.Val155fs)	7428	VHL	Pathogenic/Likely pathogenic	1559428267	RCV000767276\|RCV003313142;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MedGen:CN517202	3	10188319	10188319	NC_000003.11:g.10188319del	-
NM_000551.4(VHL):c.463G>A (p.Val155Met)	7428	VHL	Pathogenic	869025659	RCV000208799\|RCV002515564;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10188320	10188320	NC_000003.11:g.10188320G>A	ClinGen:CA357026	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.463G>C (p.Val155Leu)	7428	VHL	Conflicting interpretations of pathogenicity	869025659	RCV001323712\|RCV001577162;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557\|MedGen:CN517202	3	10188320	10188320	10188320	-
NM_000551.4(VHL):c.463+1G>C	7428	VHL	Pathogenic	869025657	RCV000208796;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10188321	10188321	3:g.10188321G>C	ClinGen:CA357023	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.463+1G>A	7428	VHL	Pathogenic	869025657	RCV000631276\|RCV000714168\|RCV002334057;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10188321	10188321	NC_000003.11:g.10188321G>A	ClinGen:CA16621909	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.463+1G>T	7428	VHL	Pathogenic	869025657	RCV001972698\|RCV002331532;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10188321	10188321	10188321	-
NM_000551.4(VHL):c.463+2T>G	7428	VHL	Likely pathogenic	5030814	RCV000036545;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10188322	10188322	3:g.10188322T>G	ClinGen:CA020373	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.463+2T>C	7428	VHL	Pathogenic	5030814	RCV000690034\|RCV000786844;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MedGen:CN517202	3	10188322	10188322	3:g.10188322T>C	-	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.463+3A>G	7428	VHL	Conflicting interpretations of pathogenicity	1131690954	RCV000492736\|RCV000587888\|RCV001809448\|RCV003316644;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10188323	10188323	NC_000003.11:g.10188323A>G	ClinGen:CA645369331	C0027672 Hereditary cancer-predisposing syndrome;
NM_000551.4(VHL):c.463+3A>C	7428	VHL	Conflicting interpretations of pathogenicity	1131690954	RCV001999191\|RCV002337111;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10188323	10188323	10188323	-
NM_000551.4(VHL):c.463+4C>T	7428	VHL	Conflicting interpretations of pathogenicity	879253989	RCV000560865\|RCV000679042\|RCV001022813;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10188324	10188324	3:g.10188324C>T	ClinGen:CA10584230	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.463+5T>G	7428	VHL	Conflicting interpretations of pathogenicity	1003364563	RCV001218453\|RCV002339573;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10188325	10188325	3:g.10188325T>G	-
NM_000551.4(VHL):c.463+8C>T	7428	VHL	Conflicting interpretations of pathogenicity	5030834	RCV000115747\|RCV000123108\|RCV000210772\|RCV000589592\|RCV001084968;	N	MedGen:CN169374\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C183791	3	10188328	10188328	3:g.10188328C>T	ClinGen:CA020379	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.463+9G>A	7428	VHL	Likely benign	1057522720	RCV000418225\|RCV000468250\|RCV002257680\|RCV002481319;	N	MedGen:CN169374\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300	3	10188329	10188329	3:g.10188329G>A	ClinGen:CA16604769	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.463+12T>C	7428	VHL	Likely benign	1382435156	RCV000607429\|RCV002064114;	N	MedGen:CN169374\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10188332	10188332	3:g.10188332T>C	ClinGen:CA541213569	CN169374 not specified;
NM_000551.4(VHL):c.463+13T>G	7428	VHL	Likely benign	-1	RCV003093427;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10188333	10188333	NC_000003.11:g.10188333T>G	-
NM_000551.4(VHL):c.463+14A>C	7428	VHL	Likely benign	-1	RCV002628996;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10188334	10188334	NC_000003.11:g.10188334A>C	-
NM_000551.4(VHL):c.463+15C>G	7428	VHL	Likely benign	761828544	RCV001941285;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10188335	10188335	10188335	-
NM_000551.4(VHL):c.463+20dup	7428	VHL	Benign	-1	RCV003073134;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10188335	10188336	NC_000003.11:g.10188340dup	-
NM_000551.4(VHL):c.463+16T>G	7428	VHL	Likely benign	2125128572	RCV002217395;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10188336	10188336	10188336	-
NM_000551.4(VHL):c.463+37_463+39del	7428	VHL	Benign/Likely benign	869025658	RCV000208837\|RCV001570948\|RCV002256123\|RCV002515563\|RCV003320604;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300	3	10188352	10188354	NC_000003.11:g.10188354TGT[1]	ClinGen:CA357094	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.463+439_*991del	7428	VHL	Pathogenic	-1	RCV001293310;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10188739	10192620	10188738	-
NC_000003.11:g.10188894_10200033del	7428	VHL	Pathogenic	-1	RCV001293317;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10188894	10200033	-1	-
NC_000003.11:g.10189293_10201409del	7428	VHL	Pathogenic	-1	RCV001293292;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10189293	10201409	-1	-
NM_000551.4(VHL):c.463+1008_*2803del	7428	VHL	Pathogenic	-1	RCV001293319;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10189293	10194417	10189292	-
NC_000003.11:g.10189323_10202010del	7428	VHL	Pathogenic	-1	RCV001293318;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10189323	10202010	-1	-
NC_000003.11:g.10190033_10209132del	7428	VHL	Pathogenic	-1	RCV001293320;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10190033	10209132	-1	-
NC_000003.12:g.10148440_10158273del	7428	VHL	Pathogenic	-1	RCV001293321;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10190114	10199947		-
NC_000003.12:g.10148566_10158401del	7428	VHL	Pathogenic	-1	RCV001293322;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10190210	10200045		-
NM_000551.4(VHL):c.464-1226_*2771del	7428	VHL	Pathogenic	-1	RCV001293324;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10190242	10194417	10190241	-
NC_000003.12:g.10148615_10158450del	7428	VHL	Pathogenic	-1	RCV001293323;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10190251	10200086		-
NM_000551.4(VHL):c.464-117del	7428	VHL	Uncertain significance	193922612	RCV000030588;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10191348	10191348	3:g.10191348_10191348del	ClinGen:CA020384	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.464-17G>C	7428	VHL	Likely benign	-1	RCV003081940;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10191454	10191454	NC_000003.11:g.10191454G>C	-
NM_000551.4(VHL):c.464-16G>T	7428	VHL	Likely benign	1453921703	RCV002193852;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10191455	10191455	10191455	-
NM_000551.4(VHL):c.464-16G>A	7428	VHL	Likely benign	-1	RCV002908460;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10191455	10191455	NC_000003.11:g.10191455G>A	-
NM_000551.4(VHL):c.464-16G>C	7428	VHL	Likely benign	-1	RCV003041733;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10191455	10191455	NC_000003.11:g.10191455G>C	-
NM_000551.4(VHL):c.464-12T>C	7428	VHL	Likely benign	746646171	RCV002160027;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10191459	10191459	10191459	-
NM_000551.4(VHL):c.464-10G>A	7428	VHL	Benign/Likely benign	552930903	RCV000544850\|RCV001143973\|RCV001576452;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MedGen:CN517202	3	10191461	10191461	3:g.10191461G>A	ClinGen:CA041194	C1837915 263400 Erythrocytosis, familial, 2;
NC_000003.12:g.(?_10149777)_(10149975_?)del	7428	VHL	Pathogenic	-1	RCV000807235;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10191461	10191659		-
NC_000003.11:g.(?_10191461)_(10191659_?)dup	7428	VHL	Uncertain significance	-1	RCV000819223;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10191461	10191659		-
NC_000003.12:g.(?_10149777)_(10150035_?)del	7428	VHL	Pathogenic	-1	RCV001033522;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10191461	10191719	-1	-
NC_000003.11:g.(?_10191461)_(10191719_?)dup	7428	VHL	Uncertain significance	-1	RCV001350982;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10191461	10191719	-1	-
NM_000551.4(VHL):c.464-9C>T	7428	VHL	Uncertain significance	1238907068	RCV001294956;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10191462	10191462	10191462	-
NM_000551.4(VHL):c.464-9C>A	7428	VHL	Likely benign	-1	RCV002862572;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10191462	10191462	NC_000003.11:g.10191462C>A	-
NM_000551.4(VHL):c.464-7C>A	7428	VHL	Likely benign	-1	RCV002751547;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10191464	10191464	NC_000003.11:g.10191464C>A	-
NM_000551.4(VHL):c.464-6T>G	7428	VHL	Likely benign	-1	RCV002998696;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10191465	10191465	NC_000003.11:g.10191465T>G	-
NM_000551.4(VHL):c.464-3C>T	7428	VHL	Uncertain significance	904414377	RCV000798494\|RCV002334502\|RCV003313149;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	3	10191468	10191468	3:g.10191468C>T	-
NM_000551.4(VHL):c.464-2A>G	7428	VHL	Pathogenic	5030816	RCV000208810\|RCV000216737\|RCV000824251\|RCV001542804\|RCV001535844;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|Me	3	10191469	10191469	3:g.10191469A>G	ClinGen:CA357046	C0027672 Hereditary cancer-predisposing syndrome;
NM_000551.4(VHL):c.464-1G>A	7428	VHL	Pathogenic	5030817	RCV000036546\|RCV000724861\|RCV001067480;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MedGen:CN517202\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10191470	10191470	3:g.10191470G>A	ClinGen:CA020389	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.464-1G>C	7428	VHL	Pathogenic	5030817	RCV000208828\|RCV001706206;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MedGen:CN517202	3	10191470	10191470	NC_000003.11:g.10191470G>C	ClinGen:CA357081	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.464-1G>T	7428	VHL	Pathogenic	5030817	RCV000208870\|RCV001853330\|RCV003329261;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MedGen:CN517202	3	10191470	10191470	NC_000003.11:g.10191470G>T	ClinGen:CA357144	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.3(VHL):c.(?_464)_642+?del	7428	VHL	Pathogenic	-1	RCV000154435;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10191471	10191649		-	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.3(VHL):c.464-?_*3705del	7428	VHL	Pathogenic	-1	RCV000232190;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10191471	10195354		-	C1837915 263400 Erythrocytosis, familial, 2;
NC_000003.11:g.(?_10191471)_(10195354_?)dup	7428	VHL	Uncertain significance	-1	RCV000459955;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10191471	10195354		-	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.464T>G (p.Val155Gly)	7428	VHL	Likely pathogenic	-1	RCV002651640;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10191471	10191471	NC_000003.11:g.10191471T>G	-
NM_000551.4(VHL):c.465G>T (p.Val155=)	7428	VHL	Likely benign	1696354036	RCV002151018;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10191472	10191472	10191472	-
NM_000551.4(VHL):c.465G>A (p.Val155=)	7428	VHL	Likely benign	1696354036	RCV002178894\|RCV003161666;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10191472	10191472	10191472	-
NM_000551.4(VHL):c.467A>G (p.Tyr156Cys)	7428	VHL	Pathogenic	397516441	RCV000036543\|RCV000487045\|RCV000492752\|RCV000631280;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Or	3	10191474	10191474	3:g.10191474A>G	ClinGen:CA020394,UniProtKB:P40337#VAR_005743	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.470C>T (p.Thr157Ile)	7428	VHL	Pathogenic	869025660	RCV000208862\|RCV001289415;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MedGen:CN517202	3	10191477	10191477	NC_000003.11:g.10191477C>T	ClinGen:CA357133,UniProtKB:P40337#VAR_005746	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.471dup (p.Leu158fs)	7428	VHL	Likely pathogenic	869025661	RCV000208814;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10191477	10191478	3:g.10191477_10191478insT	ClinGen:CA357050	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.471T>C (p.Thr157=)	7428	VHL	Likely benign	1252473811	RCV001477327;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10191478	10191478	3:g.10191478T>C	-
NM_000551.4(VHL):c.472C>G (p.Leu158Val)	7428	VHL	Pathogenic	1559429613	RCV000688156\|RCV001575396\|RCV002334267;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10191479	10191479	NC_000003.11:g.10191479C>G	-	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.473T>C (p.Leu158Pro)	7428	VHL	Pathogenic	121913346	RCV000161088\|RCV000208846\|RCV000492547\|RCV001072084;	N	MedGen:C3661900\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300	3	10191480	10191480	NC_000003.11:g.10191480T>C	ClinGen:CA020399,UniProtKB:P40337#VAR_005748	C0027672 Hereditary cancer-predisposing syndrome;
NM_000551.4(VHL):c.474_476delinsC (p.Lys159fs)	7428	VHL	Pathogenic	1553620305	RCV000589692;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10191481	10191483	NC_000003.11:g.10191481_10191483delinsC	ClinGen:CA658683298	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.477dup (p.Glu160fs)	7428	VHL	Pathogenic	730882020	RCV000767277;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10191481	10191482	NC_000003.11:g.10191484dup	-
NM_000551.4(VHL):c.474G>T (p.Leu158=)	7428	VHL	Likely benign	1575932005	RCV000978611\|RCV002327201;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10191481	10191481	3:g.10191481G>T	-
NM_000551.4(VHL):c.477del (p.Glu160fs)	7428	VHL	Pathogenic	730882020	RCV000161061\|RCV000208863\|RCV000687350\|RCV001001406\|RCV003467274;	N	MedGen:C3661900\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557\|MedGen:CN169374\|MONDO:MONDO:0009892,MedGen:C1837915	3	10191482	10191482	3:g.10191482_10191482del	ClinGen:CA020404	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.475A>T (p.Lys159Ter)	7428	VHL	Pathogenic	1575932011	RCV002007406\|RCV003329425;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10191482	10191482	10191482	-
NM_000551.4(VHL):c.477A>G (p.Lys159=)	7428	VHL	Conflicting interpretations of pathogenicity	1696354920	RCV001042292\|RCV002339209;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10191484	10191484	3:g.10191484A>G	-
NM_000551.4(VHL):c.478G>C (p.Glu160Gln)	7428	VHL	Uncertain significance	1696354965	RCV001231369\|RCV002484264;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MedGen:CN517202	3	10191485	10191485	3:g.10191485G>C	-
NM_000551.4(VHL):c.483_500dup (p.Cys162_Arg167dup)	7428	VHL	Conflicting interpretations of pathogenicity	1553620312	RCV000564563\|RCV000767278\|RCV001373035;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10191487	10191488	NC_000003.11:g.10191490_10191507dup	ClinGen:CA658655759	C0027672 Hereditary cancer-predisposing syndrome;
NM_000551.4(VHL):c.481C>T (p.Arg161Ter)	7428	VHL	Pathogenic	5030818	RCV000002301\|RCV000161091\|RCV000437445\|RCV000492225\|RCV000791367\|RCV001280922;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MedGen:C3661900\|Human Phenotype Ontology:HP:0011797,MedGen:C1336839,OMIM:605074, Orphanet:47044\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008667,MedGen:C0019	3	10191488	10191488	3:g.10191488C>T	OMIM:608537.0006,ClinGen:CA020408	C0027672 Hereditary cancer-predisposing syndrome;
NM_000551.4(VHL):c.481C>G (p.Arg161Gly)	7428	VHL	Pathogenic	5030818	RCV000756901\|RCV001855883\|RCV002332535;	N	MedGen:C3661900\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10191488	10191488	NC_000003.11:g.10191488C>G	-
NM_000551.4(VHL):c.482G>A (p.Arg161Gln)	7428	VHL	Pathogenic	730882035	RCV000161092\|RCV000208848\|RCV000456958\|RCV000563066;	N	MedGen:C3661900\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Or	3	10191489	10191489	NC_000003.11:g.10191489G>A	ClinGen:CA020413,UniProtKB:P40337#VAR_005751	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.483del (p.Cys162fs)	7428	VHL	Pathogenic/Likely pathogenic	1696355438	RCV001193296\|RCV002339489;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10191490	10191490	3:g.10191490_10191490del	-
NM_000551.4(VHL):c.484T>C (p.Cys162Arg)	7428	VHL	Pathogenic	1553620313	RCV000587033\|RCV001060967;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10191491	10191491	NC_000003.11:g.10191491T>C	ClinGen:CA351756117	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.484del (p.Cys162fs)	7428	VHL	Likely pathogenic	1696355550	RCV001310082;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10191491	10191491	10191490	-
NM_000551.4(VHL):c.485G>T (p.Cys162Phe)	7428	VHL	Pathogenic	397516444	RCV000036548\|RCV002513389;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10191492	10191492	3:g.10191492G>T	ClinGen:CA020418,UniProtKB:P40337#VAR_005754	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.485G>A (p.Cys162Tyr)	7428	VHL	Likely pathogenic	397516444	RCV000208789\|RCV003278699;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10191492	10191492	NC_000003.11:g.10191492G>A	ClinGen:CA357010,UniProtKB:P40337#VAR_005757	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.486C>A (p.Cys162Ter)	7428	VHL	Pathogenic	5030622	RCV000208851\|RCV001061348\|RCV003165513;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10191493	10191493	NC_000003.11:g.10191493C>A	ClinGen:CA357112	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.486C>G (p.Cys162Trp)	7428	VHL	Pathogenic	5030622	RCV000208792\|RCV000226031\|RCV000567560\|RCV000679043;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Me	3	10191493	10191493	3:g.10191493C>G	ClinGen:CA357016,UniProtKB:P40337#VAR_005756	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.487C>T (p.Leu163Phe)	7428	VHL	Conflicting interpretations of pathogenicity	1553620318	RCV000561095\|RCV001224534\|RCV001553667;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MedGen:CN169374	3	10191494	10191494	NC_000003.11:g.10191494C>T	ClinGen:CA351756135	C0027672 Hereditary cancer-predisposing syndrome;
NM_000551.4(VHL):c.488T>C (p.Leu163Pro)	7428	VHL	Likely pathogenic	28940297	RCV000002319\|RCV001231697\|RCV003298026;	N	MedGen:C4017161\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10191495	10191495	3:g.10191495T>C	ClinGen:CA020423,UniProtKB:P40337#VAR_034998,OMIM:608537.0018	C4017161 Renal cell carcinoma with paraneoplastic erythrocytosis;
NM_000551.4(VHL):c.488T>G (p.Leu163Arg)	7428	VHL	Pathogenic	28940297	RCV000474133;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10191495	10191495	NC_000003.11:g.10191495T>G	ClinGen:CA16611277	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.489C>G (p.Leu163=)	7428	VHL	Likely benign	1575932067	RCV000932861\|RCV002258052;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10191496	10191496	3:g.10191496C>G	-
NM_000551.4(VHL):c.490C>T (p.Gln164Ter)	7428	VHL	Pathogenic	5030819	RCV000208820\|RCV000485182\|RCV000792769\|RCV002336585;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MedGen:C3661900\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Or	3	10191497	10191497	3:g.10191497C>T	ClinGen:CA357060	CN517202 not provided;
NM_000551.4(VHL):c.490C>G (p.Gln164Glu)	7428	VHL	Uncertain significance	5030819	RCV000767279;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10191497	10191497	NC_000003.11:g.10191497C>G	-
NM_000551.4(VHL):c.491A>G (p.Gln164Arg)	7428	VHL	Pathogenic	267607170	RCV000002326\|RCV001023261\|RCV001052383;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10191498	10191498	3:g.10191498A>G	ClinGen:CA020429,UniProtKB:P40337#VAR_005758,OMIM:608537.0027	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.492G>T (p.Gln164His)	7428	VHL	Pathogenic/Likely pathogenic	1352275281	RCV000538803\|RCV002508221\|RCV003302779\|RCV003330751;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300	3	10191499	10191499	3:g.10191499G>T	ClinGen:CA351756157	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.492G>C (p.Gln164His)	7428	VHL	Pathogenic/Likely pathogenic	1352275281	RCV000756902\|RCV001023281\|RCV001382402;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10191499	10191499	NC_000003.11:g.10191499G>C	-
NM_000551.4(VHL):c.493G>T (p.Val165Phe)	7428	VHL	Uncertain significance	1575932103	RCV000804147;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10191500	10191500	3:g.10191500G>T	-
NM_000551.4(VHL):c.494T>G (p.Val165Gly)	7428	VHL	Uncertain significance	1575932110	RCV000808116;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10191501	10191501	3:g.10191501T>G	-
NM_000551.4(VHL):c.496_506del (p.Val166fs)	7428	VHL	Likely pathogenic	869025663	RCV000208854;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10191502	10191512	NC_000003.11:g.10191503_10191513del	ClinGen:CA357119
NM_000551.4(VHL):c.496G>T (p.Val166Phe)	7428	VHL	Pathogenic	104893825	RCV000002310\|RCV000220823\|RCV001851578\|RCV002288459;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|Me	3	10191503	10191503	3:g.10191503G>T	ClinGen:CA020436,UniProtKB:P40337#VAR_005759,OMIM:608537.0013	C0027672 Hereditary cancer-predisposing syndrome;
NM_000551.4(VHL):c.496G>A (p.Val166Ile)	7428	VHL	Uncertain significance	104893825	RCV002016917;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10191503	10191503	10191503	-
NM_000551.4(VHL):c.497T>C (p.Val166Ala)	7428	VHL	Pathogenic/Likely pathogenic	397516445	RCV000036549\|RCV001023359\|RCV001701727;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	3	10191504	10191504	3:g.10191504T>C	ClinGen:CA020442	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.497T>A (p.Val166Asp)	7428	VHL	Pathogenic	397516445	RCV000767280;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10191504	10191504	NC_000003.11:g.10191504T>A	-
NM_000551.4(VHL):c.497T>G (p.Val166Gly)	7428	VHL	Uncertain significance	397516445	RCV000767281;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10191504	10191504	NC_000003.11:g.10191504T>G	-
NM_000551.4(VHL):c.498C>T (p.Val166=)	7428	VHL	Likely benign	2125130531	RCV001467399;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10191505	10191505	10191505	-
NM_000551.4(VHL):c.499C>T (p.Arg167Trp)	7428	VHL	Pathogenic	5030820	RCV000002302\|RCV000002303\|RCV000132159\|RCV000213079\|RCV000435817\|RCV000627746\|RCV000763092;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|Human Phenot	3	10191506	10191506	3:g.10191506C>T	ClinGen:CA020450,UniProtKB:P40337#VAR_005762,OMIM:608537.0003	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.499C>G (p.Arg167Gly)	7428	VHL	Pathogenic	5030820	RCV000002304\|RCV000466046\|RCV002336073;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10191506	10191506	3:g.10191506C>G	ClinGen:CA020446,UniProtKB:P40337#VAR_005760,OMIM:608537.0004	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.500G>A (p.Arg167Gln)	7428	VHL	Conflicting interpretations of pathogenicity	5030821	RCV000002300\|RCV000213850\|RCV000325074\|RCV000506694\|RCV000627745\|RCV003448242;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MedGen:CN169374\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C001	3	10191507	10191507	3:g.10191507G>A	ClinGen:CA020454,UniProtKB:P40337#VAR_005761,OMIM:608537.0005	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.500G>C (p.Arg167Pro)	7428	VHL	Pathogenic/Likely pathogenic	5030821	RCV000492510\|RCV000767282;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10191507	10191507	3:g.10191507G>C	ClinGen:CA351756177	C0027672 Hereditary cancer-predisposing syndrome;
NM_000551.4(VHL):c.500G>T (p.Arg167Leu)	7428	VHL	Pathogenic	5030821	RCV000631284;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10191507	10191507	3:g.10191507G>T	ClinGen:CA351756178	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.501_502insTTGTCCGT (p.Ser168fs)	7428	VHL	Pathogenic/Likely pathogenic	398123483	RCV000079210\|RCV000723632\|RCV000818637\|RCV001023415;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MedGen:C3661900\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Or	3	10191508	10191509	NC_000003.11:g.10191508_10191509insTTGTCCGT	ClinGen:CA020458	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.504_519del (p.Ser168fs)	7428	VHL	Pathogenic	2125130543	RCV001383309;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10191508	10191523	10191507	-
NM_000551.4(VHL):c.501G>C (p.Arg167=)	7428	VHL	Likely benign	1461479062	RCV001501981;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10191508	10191508	10191508	-
NM_000551.4(VHL):c.505dup (p.Leu169fs)	7428	VHL	Pathogenic	1696357569	RCV001224455;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10191510	10191511	3:g.10191510_10191511insC	-
NM_000551.4(VHL):c.503G>A (p.Ser168Asn)	7428	VHL	Uncertain significance	-1	RCV003017988\|RCV003465888\|RCV003317638;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557\|MedGen:C3661900	3	10191510	10191510	NC_000003.11:g.10191510G>A	-
NM_000551.4(VHL):c.504C>T (p.Ser168=)	7428	VHL	Likely benign	1553620323	RCV000631298;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10191511	10191511	3:g.10191511C>T	ClinGen:CA432423306	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.507A>C (p.Leu169=)	7428	VHL	Likely benign	878854126	RCV000226697\|RCV002338713;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10191514	10191514	3:g.10191514A>C	ClinGen:CA10582116	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.507A>G (p.Leu169=)	7428	VHL	Likely benign	-1	RCV003012167;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10191514	10191514		-
NM_000551.4(VHL):c.508G>A (p.Val170Ile)	7428	VHL	Uncertain significance	1553620326	RCV000569840\|RCV001210329\|RCV002483543\|RCV003322793;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:	3	10191515	10191515	NC_000003.11:g.10191515G>A	ClinGen:CA351756194	C0027672 Hereditary cancer-predisposing syndrome;
NM_000551.4(VHL):c.508G>C (p.Val170Leu)	7428	VHL	Likely pathogenic	1553620326	RCV001028059;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10191515	10191515	3:g.10191515G>C	-
NM_000551.4(VHL):c.509T>A (p.Val170Asp)	7428	VHL	Pathogenic/Likely pathogenic	864321642	RCV000767283\|RCV001701154\|RCV002334429\|RCV002533922;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Or	3	10191516	10191516	NC_000003.11:g.10191516T>A	-
NM_000551.4(VHL):c.511A>G (p.Lys171Glu)	7428	VHL	Uncertain significance	-1	RCV003062290;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10191518	10191518	NC_000003.11:g.10191518A>G	-
NM_000551.4(VHL):c.512A>G (p.Lys171Arg)	7428	VHL	Uncertain significance	1696358528	RCV001299192;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10191519	10191519	10191519	-
NM_000551.4(VHL):c.513G>T (p.Lys171Asn)	7428	VHL	Uncertain significance	1365445365	RCV000631263\|RCV002343199\|RCV003459501;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10191520	10191520	3:g.10191520G>T	ClinGen:CA351756204	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.513G>C (p.Lys171Asn)	7428	VHL	Uncertain significance	1365445365	RCV001896326\|RCV003303309;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10191520	10191520	10191520	-
NM_000551.4(VHL):c.514C>T (p.Pro172Ser)	7428	VHL	Uncertain significance	-1	RCV003117967\|RCV003368046;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10191521	10191521	NC_000003.11:g.10191521C>T	-
NM_000551.4(VHL):c.515C>G (p.Pro172Arg)	7428	VHL	Uncertain significance	-1	RCV002301777;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10191522	10191522	10191522	-
NM_000551.4(VHL):c.516T>G (p.Pro172=)	7428	VHL	Likely benign	1575932227	RCV001459110\|RCV002336883;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10191523	10191523	3:g.10191523T>G	-
NM_000551.4(VHL):c.519G>C (p.Glu173Asp)	7428	VHL	Uncertain significance	1696359154	RCV001890146;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10191526	10191526	10191526	-
NM_000551.4(VHL):c.520A>T (p.Asn174Tyr)	7428	VHL	Uncertain significance	1060503566	RCV000461022\|RCV003298509;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10191527	10191527	NC_000003.11:g.10191527A>T	ClinGen:CA16611095	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.521A>G (p.Asn174Ser)	7428	VHL	Uncertain significance	1575932235	RCV000794453;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10191528	10191528	3:g.10191528A>G	-
NM_000551.4(VHL):c.522T>C (p.Asn174=)	7428	VHL	Likely benign	1057523911	RCV000435908\|RCV001498383\|RCV002339091;	N	MedGen:CN169374\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10191529	10191529	3:g.10191529T>C	ClinGen:CA16604772	CN169374 not specified;
NM_000551.4(VHL):c.524dup (p.Tyr175Ter)	7428	VHL	Pathogenic	-1	RCV003054800;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10191530	10191531	NC_000003.11:g.10191531dup	-
NM_000551.4(VHL):c.524A>G (p.Tyr175Cys)	7428	VHL	Pathogenic/Likely pathogenic	193922613	RCV000030589\|RCV000492408\|RCV000533687;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10191531	10191531	3:g.10191531A>G	ClinGen:CA020462	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.524A>T (p.Tyr175Phe)	7428	VHL	Uncertain significance	193922613	RCV001023797\|RCV001359453\|RCV001536627;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MedGen:C3661900	3	10191531	10191531	3:g.10191531A>T	-
NM_000551.4(VHL):c.525C>G (p.Tyr175Ter)	7428	VHL	Pathogenic	5030835	RCV000549585\|RCV001388392;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10191532	10191532	NC_000003.11:g.10191532C>G	ClinGen:CA020466	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.525C>T (p.Tyr175=)	7428	VHL	Likely benign	5030835	RCV000939418\|RCV001023811;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10191532	10191532	3:g.10191532C>T	-
NM_000551.4(VHL):c.526del (p.Arg176fs)	7428	VHL	Pathogenic	1559429711	RCV000767284;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10191533	10191533	NC_000003.11:g.10191533del	-
NM_000551.4(VHL):c.526A>G (p.Arg176Gly)	7428	VHL	Uncertain significance	1575932259	RCV000799447\|RCV002345780;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10191533	10191533	3:g.10191533A>G	-
NM_000551.4(VHL):c.530_536del (p.Arg177fs)	7428	VHL	Pathogenic	1575932266	RCV000855722;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; Human Phenotype Ontology:HP:0011797,MedGen:C1336839,OMIM:605074, Orphanet:47044; ; Human Phenotype Ontology:HP:0006761,Human Phenotype Ontology:HP:0006880,MONDO:MONDO:0003901,MedGen:C1332900	3	10191534	10191540	3:g.10191534_10191540del	-
NM_000551.4(VHL):c.528G>T (p.Arg176Ser)	7428	VHL	Uncertain significance	762748790	RCV001313310;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10191535	10191535	10191535	-
NM_000551.4(VHL):c.529A>T (p.Arg177Ter)	7428	VHL	Pathogenic	1559429717	RCV000767285;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10191536	10191536	NC_000003.11:g.10191536A>T	-
NM_000551.4(VHL):c.530G>C (p.Arg177Thr)	7428	VHL	Uncertain significance	1470394966	RCV002021758\|RCV002486749;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; Hum	3	10191537	10191537	10191537	-
NM_000551.4(VHL):c.531_542delinsTC (p.Arg177fs)	7428	VHL	Pathogenic/Likely pathogenic	1553620331	RCV000657387\|RCV000660352;	N	MedGen:CN517202\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10191538	10191549	3:g.10191539_10191549del	-	CN517202 not provided;
NM_000551.4(VHL):c.531A>G (p.Arg177=)	7428	VHL	Likely benign	766088261	RCV001023914\|RCV000945927;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10191538	10191538	3:g.10191538A>G	-
NM_000551.4(VHL):c.531A>T (p.Arg177Ser)	7428	VHL	Uncertain significance	766088261	RCV001320544;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10191538	10191538	10191538	-
NM_000551.4(VHL):c.532C>G (p.Leu178Val)	7428	VHL	Uncertain significance	755146587	RCV000694261\|RCV003303142;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10191539	10191539	3:g.10191539C>G	-	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.532C>T (p.Leu178=)	7428	VHL	Likely benign	755146587	RCV002087154;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10191539	10191539	10191539	-
NM_000551.4(VHL):c.533T>C (p.Leu178Pro)	7428	VHL	Pathogenic	5030822	RCV000492520\|RCV000631291\|RCV000767287;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10191540	10191540	3:g.10191540T>C	ClinGen:CA351756245	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.533T>A (p.Leu178Gln)	7428	VHL	Pathogenic	5030822	RCV000767288;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10191540	10191540	NC_000003.11:g.10191540T>A	-
NM_000551.4(VHL):c.533T>G (p.Leu178Arg)	7428	VHL	Pathogenic	5030822	RCV000767289\|RCV003279047;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10191540	10191540	NC_000003.11:g.10191540T>G	-
NM_000551.4(VHL):c.533_534del (p.Leu178fs)	7428	VHL	Pathogenic	1559429736	RCV000767286\|RCV002343616\|RCV002536594;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10191540	10191541	NC_000003.11:g.10191540_10191541del	-
NM_000551.4(VHL):c.535G>A (p.Asp179Asn)	7428	VHL	Uncertain significance	767780451	RCV000705398\|RCV001704601\|RCV002350061;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10191542	10191542	3:g.10191542G>A	ClinGen:CA041455	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.535G>C (p.Asp179His)	7428	VHL	Uncertain significance	767780451	RCV001996591;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10191542	10191542	10191542	-
NM_000551.4(VHL):c.538A>G (p.Ile180Val)	7428	VHL	Conflicting interpretations of pathogenicity	377715747	RCV000148921\|RCV000480432\|RCV000569566\|RCV000524495\|RCV002467588\|RCV003387773;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Or	3	10191545	10191545	3:g.10191545A>G	ClinGen:CA020469,UniProtKB:P40337#VAR_005770	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.539T>G (p.Ile180Ser)	7428	VHL	Uncertain significance	1559429750	RCV000767290\|RCV001174736;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MedGen:CN169374	3	10191546	10191546	NC_000003.11:g.10191546T>G	-
NM_000551.4(VHL):c.540_543del (p.Val181fs)	7428	VHL	Pathogenic	869025664	RCV000208795\|RCV000805034;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10191547	10191550	NC_000003.11:g.10191547_10191550del	ClinGen:CA357022	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.540C>T (p.Ile180=)	7428	VHL	Likely benign	374927292	RCV000457742\|RCV000569454\|RCV001087269\|RCV003316553;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300	3	10191547	10191547	3:g.10191547C>T	ClinGen:CA041478	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.540C>G (p.Ile180Met)	7428	VHL	Uncertain significance	374927292	RCV001867477;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10191547	10191547	10191547	-
NM_000551.4(VHL):c.541G>A (p.Val181Ile)	7428	VHL	Uncertain significance	878854127	RCV000229544\|RCV000662874\|RCV002257540\|RCV002465580\|RCV003153527;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Me	3	10191548	10191548	3:g.10191548G>A	ClinGen:CA10582117	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.542T>C (p.Val181Ala)	7428	VHL	Uncertain significance	1553620340	RCV000631290;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10191549	10191549	NC_000003.11:g.10191549T>C	ClinGen:CA351756307	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.544A>G (p.Arg182Gly)	7428	VHL	Conflicting interpretations of pathogenicity	778205243	RCV000204757\|RCV000235376\|RCV000663322\|RCV001024120;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MedGen:C3661900\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Or	3	10191551	10191551	3:g.10191551A>G	ClinGen:CA041490	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.546del (p.Arg182fs)	7428	VHL	Uncertain significance	869025665	RCV000208835;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10191552	10191552	3:g.10191552_10191552del	ClinGen:CA357093	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.545G>A (p.Arg182Lys)	7428	VHL	Uncertain significance	749774529	RCV000214081\|RCV000704890\|RCV001570193\|RCV001543676\|RCV003390967\|RCV003469044;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MedGen:C3661900\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300	3	10191552	10191552	3:g.10191552G>A	ClinGen:CA041507	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.545G>C (p.Arg182Thr)	7428	VHL	Uncertain significance	749774529	RCV001205464;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10191552	10191552	3:g.10191552G>C	-
NM_000551.4(VHL):c.545G>T (p.Arg182Met)	7428	VHL	Uncertain significance	749774529	RCV001894758;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10191552	10191552	10191552	-
NM_000551.4(VHL):c.547del (p.Ser183fs)	7428	VHL	Likely pathogenic	1559429778	RCV000767291;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10191554	10191554	NC_000003.11:g.10191554del	-
NM_000551.4(VHL):c.548C>A (p.Ser183Ter)	7428	VHL	Pathogenic	5030823	RCV000002299\|RCV000208867\|RCV000703889\|RCV003162205;	N	Human Phenotype Ontology:HP:0011797,MedGen:C1336839,OMIM:605074, Orphanet:47044\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,O	3	10191555	10191555	3:g.10191555C>A	ClinGen:CA020473,OMIM:608537.0002	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.548C>G (p.Ser183Trp)	7428	VHL	Uncertain significance	5030823	RCV000203537\|RCV001853277;	N	Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10191555	10191555	3:g.10191555C>G	ClinGen:CA277912	C0031511 171300 Pheochromocytoma;
NM_000551.4(VHL):c.548C>T (p.Ser183Leu)	7428	VHL	Uncertain significance	5030823	RCV000476376\|RCV001007624\|RCV002349982\|RCV003237874;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10191555	10191555	NC_000003.11:g.10191555C>T	ClinGen:CA041537,OMIM:608537.0029	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.549G>A (p.Ser183=)	7428	VHL	Likely benign	193922614	RCV000030590\|RCV000459500\|RCV001703429\|RCV002258781;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Or	3	10191556	10191556	3:g.10191556G>A	ClinGen:CA020477	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.549G>T (p.Ser183=)	7428	VHL	Likely benign	193922614	RCV001414354\|RCV002345734\|RCV003387805;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374	3	10191556	10191556	NC_000003.11:g.10191556G>T	ClinGen:CA348201	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.550C>G (p.Leu184Val)	7428	VHL	Uncertain significance	1696361913	RCV001345511;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10191557	10191557	10191557	-
NM_000551.4(VHL):c.551T>C (p.Leu184Pro)	7428	VHL	Pathogenic/Likely pathogenic	1064793878	RCV000484822\|RCV001258069;	N	MedGen:CN517202\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10191558	10191558	3:g.10191558T>C	ClinGen:CA16617792	CN517202 not provided;
NM_000551.4(VHL):c.552C>T (p.Leu184=)	7428	VHL	Benign/Likely benign	779157605	RCV000200112\|RCV000456135\|RCV000570693\|RCV000605011;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Me	3	10191559	10191559	NC_000003.11:g.10191559C>T	ClinGen:CA041571	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.552C>G (p.Leu184=)	7428	VHL	Likely benign	-1	RCV002351812\|RCV003103185;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10191559	10191559		-
NM_000551.4(VHL):c.553T>C (p.Tyr185His)	7428	VHL	Uncertain significance	768390987	RCV000631285;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10191560	10191560	3:g.10191560T>C	ClinGen:CA351756363	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.553T>A (p.Tyr185Asn)	7428	VHL	Uncertain significance	768390987	RCV001905552\|RCV003470996;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10191560	10191560	10191560	-
NM_000551.4(VHL):c.554A>G (p.Tyr185Cys)	7428	VHL	Conflicting interpretations of pathogenicity	561874453	RCV000208797\|RCV000236099\|RCV000565491\|RCV000631260\|RCV002485365\|RCV003422117\|RCV003462397;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300	3	10191561	10191561	3:g.10191561A>G	ClinGen:CA041601	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.554A>T (p.Tyr185Phe)	7428	VHL	Uncertain significance	-1	RCV003054506;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10191561	10191561	NC_000003.11:g.10191561A>T	-
NM_000551.4(VHL):c.555_557del (p.Tyr185_Glu186delinsTer)	7428	VHL	Pathogenic	-1	RCV003452626;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10191561	10191563		-
NM_000551.4(VHL):c.555C>T (p.Tyr185=)	7428	VHL	Likely benign	864622109	RCV000205143\|RCV000445253\|RCV000566421;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10191562	10191562	3:g.10191562C>T	ClinGen:CA349343	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.555C>G (p.Tyr185Ter)	7428	VHL	Pathogenic/Likely pathogenic	864622109	RCV000208826\|RCV000219064\|RCV001377065;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10191562	10191562	NC_000003.11:g.10191562C>G	ClinGen:CA357075	C0027672 Hereditary cancer-predisposing syndrome;
NM_000551.4(VHL):c.556G>A (p.Glu186Lys)	7428	VHL	Conflicting interpretations of pathogenicity	367545984	RCV000148924\|RCV000589801\|RCV000698671\|RCV001024290\|RCV003467207;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MedGen:C3661900\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Or	3	10191563	10191563	3:g.10191563G>A	ClinGen:CA020480,UniProtKB:P40337#VAR_005773	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.558_560del (p.Glu186del)	7428	VHL	Uncertain significance	1559429813	RCV000767292;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10191563	10191565	NC_000003.11:g.10191565_10191567del	-
NM_000551.4(VHL):c.556G>C (p.Glu186Gln)	7428	VHL	Uncertain significance	367545984	RCV001316784;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10191563	10191563	10191563	-
NM_000551.4(VHL):c.558A>C (p.Glu186Asp)	7428	VHL	Uncertain significance	587778744	RCV000122261\|RCV001038969\|RCV003162559;	N	MedGen:CN169374\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10191565	10191565	3:g.10191565A>C	ClinGen:CA020484	CN169374 not specified;
NM_000551.4(VHL):c.561T>C (p.Asp187=)	7428	VHL	Likely benign	370769257	RCV000474718\|RCV000611083\|RCV001024335;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10191568	10191568	NC_000003.11:g.10191568T>C	ClinGen:CA041631	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.562C>G (p.Leu188Val)	7428	VHL	Pathogenic/Likely pathogenic	5030824	RCV000002312\|RCV000002311\|RCV000002313\|RCV000210199\|RCV000480890\|RCV000627743\|RCV003330076;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|Human Phenotype Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300, Orphanet:29072\|MONDO:MONDO:0015356,MeSH:D009	3	10191569	10191569	3:g.10191569C>G	UniProtKB:P40337#VAR_005777,OMIM:608537.0014,ClinGen:CA020488	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.562C>T (p.Leu188=)	7428	VHL	Likely benign	-1	RCV002345068\|RCV003103204;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10191569	10191569		-
NM_000551.4(VHL):c.563T>A (p.Leu188Gln)	7428	VHL	Likely pathogenic	1559429824	RCV000767293;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10191570	10191570	NC_000003.11:g.10191570T>A	-
NM_000551.4(VHL):c.563T>C (p.Leu188Pro)	7428	VHL	Pathogenic/Likely pathogenic	1559429824	RCV000767294\|RCV002536595;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10191570	10191570	NC_000003.11:g.10191570T>C	-
NM_000551.4(VHL):c.563T>G (p.Leu188Arg)	7428	VHL	Likely pathogenic	1559429824	RCV001246640;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10191570	10191570	3:g.10191570T>G	-
NM_000551.4(VHL):c.565del (p.Glu189fs)	7428	VHL	Likely pathogenic	1559429829	RCV000767295;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10191571	10191571	NC_000003.11:g.10191572del	-
NM_000551.4(VHL):c.565G>A (p.Glu189Lys)	7428	VHL	Uncertain significance	762790375	RCV002037463;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10191572	10191572	10191572	-
NM_000551.4(VHL):c.568_570dup (p.Asp190dup)	7428	VHL	Uncertain significance	1559429840	RCV000697499;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10191574	10191575	NC_000003.11:g.10191575_10191577dup	-	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.570C>T (p.Asp190=)	7428	VHL	Likely benign	2125130723	RCV002094925;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10191577	10191577	10191577	-
NM_000551.4(VHL):c.571C>G (p.His191Asp)	7428	VHL	Likely pathogenic	28940301	RCV000002323\|RCV001219111;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10191578	10191578	3:g.10191578C>G	ClinGen:CA020495,UniProtKB:P40337#VAR_034999,OMIM:608537.0024	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.572A>C (p.His191Pro)	7428	VHL	Conflicting interpretations of pathogenicity	370050374	RCV000161093\|RCV000200136\|RCV002345555\|RCV003462112;	N	MedGen:C3661900\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400	3	10191579	10191579	NC_000003.11:g.10191579A>C	ClinGen:CA020500	CN169374 not specified;
NM_000551.4(VHL):c.572A>G (p.His191Arg)	7428	VHL	Uncertain significance	370050374	RCV000815290\|RCV001292677\|RCV002345864;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10191579	10191579	3:g.10191579A>G	-
NM_000551.4(VHL):c.575del (p.Pro192fs)	7428	VHL	Pathogenic	2125130735	RCV002272753;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10191580	10191580	10191579	-
NM_000551.4(VHL):c.574C>T (p.Pro192Ser)	7428	VHL	Conflicting interpretations of pathogenicity	28940300	RCV000002322\|RCV000236065\|RCV000704063\|RCV001024480\|RCV002490296;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557\|MedGen:C3661900\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672	3	10191581	10191581	3:g.10191581C>T	ClinGen:CA020501,UniProtKB:P40337#VAR_035000,OMIM:608537.0023	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.574C>A (p.Pro192Thr)	7428	VHL	Conflicting interpretations of pathogenicity	28940300	RCV001988653\|RCV003464363;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10191581	10191581	10191581	-
NM_000551.4(VHL):c.575C>T (p.Pro192Leu)	7428	VHL	Conflicting interpretations of pathogenicity	902694906	RCV000631274\|RCV000679044\|RCV000767296\|RCV002343200;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MedGen:C3661900\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Or	3	10191582	10191582	3:g.10191582C>T	ClinGen:CA351756444	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.575C>G (p.Pro192Arg)	7428	VHL	Conflicting interpretations of pathogenicity	902694906	RCV001024492\|RCV001294333;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10191582	10191582	3:g.10191582C>G	-
NM_000551.4(VHL):c.576A>C (p.Pro192=)	7428	VHL	Likely benign	1372952726	RCV001398483\|RCV002354867;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10191583	10191583	3:g.10191583A>C	-
NM_000551.4(VHL):c.578A>G (p.Asn193Ser)	7428	VHL	Uncertain significance	879254225	RCV000236061\|RCV000537589\|RCV001024530;	N	MedGen:C3661900\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10191585	10191585	NC_000003.11:g.10191585A>G	ClinGen:CA10584231	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.579T>C (p.Asn193=)	7428	VHL	Likely benign	1060503558	RCV000476563;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10191586	10191586	NC_000003.11:g.10191586T>C	ClinGen:CA16611070	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.579T>A (p.Asn193Lys)	7428	VHL	Uncertain significance	1060503558	RCV000464021\|RCV003168861;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10191586	10191586	NC_000003.11:g.10191586T>A	ClinGen:CA16611097	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.581T>G (p.Val194Gly)	7428	VHL	Pathogenic/Likely pathogenic	1131690963	RCV000492180\|RCV000547627;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10191588	10191588	3:g.10191588T>G	ClinGen:CA351756475	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.585_606dup (p.Gln203fs)	7428	VHL	Uncertain significance	1559429876	RCV000767297;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10191589	10191590	NC_000003.11:g.10191592_10191613dup	-
NM_000551.4(VHL):c.582G>A (p.Val194=)	7428	VHL	Likely benign	1696363804	RCV002093040;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10191589	10191589	10191589	-
NM_000551.4(VHL):c.587_590dup (p.Asp197fs)	7428	VHL	Likely pathogenic	869025666	RCV000208841;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10191590	10191591	NC_000003.11:g.10191594_10191597dup	ClinGen:CA357099	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.583C>T (p.Gln195Ter)	7428	VHL	Pathogenic	5030825	RCV000492237\|RCV001030024;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10191590	10191590	3:g.10191590C>T	ClinGen:CA70052558	C0027672 Hereditary cancer-predisposing syndrome;
NM_000551.4(VHL):c.585_586del (p.Lys196fs)	7428	VHL	Pathogenic	1553620362	RCV000660353;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10191591	10191592	3:g.10191591_10191592del	-	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.584A>G (p.Gln195Arg)	7428	VHL	Conflicting interpretations of pathogenicity	-1	RCV002353321\|RCV003103239;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10191591	10191591	10191591	-
NM_000551.4(VHL):c.584A>C (p.Gln195Pro)	7428	VHL	Uncertain significance	-1	RCV002635553;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10191591	10191591	NC_000003.11:g.10191591A>C	-
NM_000551.4(VHL):c.585G>C (p.Gln195His)	7428	VHL	Uncertain significance	878854128	RCV000227376\|RCV002354644;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10191592	10191592	3:g.10191592G>C	ClinGen:CA10582118	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.586A>T (p.Lys196Ter)	7428	VHL	Pathogenic	281860296	RCV000177084\|RCV000724622;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MedGen:CN517202	3	10191593	10191593	3:g.10191593A>T	ClinGen:CA020507	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.586A>G (p.Lys196Glu)	7428	VHL	Conflicting interpretations of pathogenicity	281860296	RCV000476155\|RCV002356706;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10191593	10191593	NC_000003.11:g.10191593A>G	ClinGen:CA16611099	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.588A>G (p.Lys196=)	7428	VHL	Likely benign	935543450	RCV001394649;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10191595	10191595	10191595	-
NM_000551.4(VHL):c.589G>A (p.Asp197Asn)	7428	VHL	Likely pathogenic	1064794951	RCV002251697;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10191596	10191596	10191596	-
NM_000551.4(VHL):c.590A>C (p.Asp197Ala)	7428	VHL	Uncertain significance	752940316	RCV000806798;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10191597	10191597	3:g.10191597A>C	-
NM_000551.4(VHL):c.591C>T (p.Asp197=)	7428	VHL	Likely benign	1575932584	RCV001483814;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10191598	10191598	3:g.10191598C>T	-
NM_000551.4(VHL):c.592C>G (p.Leu198Val)	7428	VHL	Uncertain significance	1187217673	RCV001323713;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10191599	10191599	10191599	-
NM_000551.4(VHL):c.592_594del (p.Leu198del)	7428	VHL	Uncertain significance	2125130773	RCV001878691;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10191599	10191601	10191598	-
NM_000551.4(VHL):c.593T>C (p.Leu198Pro)	7428	VHL	Likely pathogenic	869025667	RCV000208871\|RCV001024703;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10191600	10191600	3:g.10191600T>C	ClinGen:CA357145	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.593T>A (p.Leu198Gln)	7428	VHL	Likely pathogenic	869025667	RCV001377066;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10191600	10191600	10191600	-
NM_000551.4(VHL):c.594G>C (p.Leu198=)	7428	VHL	Likely benign	1575932599	RCV000905495\|RCV001024715;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10191601	10191601	3:g.10191601G>C	-
NM_000551.4(VHL):c.594G>A (p.Leu198=)	7428	VHL	Likely benign	1575932599	RCV001480144;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10191601	10191601	10191601	-
NM_000551.4(VHL):c.595G>A (p.Glu199Lys)	7428	VHL	Uncertain significance	1325187978	RCV001234397;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10191602	10191602	3:g.10191602G>A	-
NM_000551.4(VHL):c.596A>C (p.Glu199Ala)	7428	VHL	Uncertain significance	760690217	RCV000631279\|RCV001024729\|RCV001544814\|RCV003459502;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400	3	10191603	10191603	3:g.10191603A>C	ClinGen:CA041760	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.596A>G (p.Glu199Gly)	7428	VHL	Uncertain significance	760690217	RCV001052780;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10191603	10191603	3:g.10191603A>G	-
NM_000551.4(VHL):c.596A>T (p.Glu199Val)	7428	VHL	Uncertain significance	760690217	RCV001209128;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10191603	10191603	3:g.10191603A>T	-
NM_000551.4(VHL):c.597G>A (p.Glu199=)	7428	VHL	Likely benign	1387975369	RCV001024740\|RCV002551904;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10191604	10191604	3:g.10191604G>A	-
NM_000551.4(VHL):c.597del (p.Glu199fs)	7428	VHL	Pathogenic	-1	RCV003233054;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10191604	10191604		-
NM_000551.4(VHL):c.598C>T (p.Arg200Trp)	7428	VHL	Conflicting interpretations of pathogenicity	28940298	RCV000002320\|RCV000148922\|RCV000161094\|RCV000122262\|RCV000574264\|RCV000627742\|RCV000722031\|RCV002247239;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MedGen:C3661900\|MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009892,MedGen:C183	3	10191605	10191605	3:g.10191605C>T	ClinGen:CA020510,UniProtKB:P40337#VAR_005779,OMIM:608537.0019	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.599G>A (p.Arg200Gln)	7428	VHL	Conflicting interpretations of pathogenicity	754016774	RCV000479035\|RCV000823835\|RCV001024771\|RCV001143974\|RCV003401545\|RCV003464021;	N	MedGen:C3661900\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300	3	10191606	10191606	3:g.10191606G>A	ClinGen:CA041791	CN517202 not provided;
NM_000551.4(VHL):c.599G>T (p.Arg200Leu)	7428	VHL	Likely pathogenic	754016774	RCV001042529;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10191606	10191606	3:g.10191606G>T	-
NM_000551.4(VHL):c.601C>T (p.Leu201=)	7428	VHL	Likely benign	786201557	RCV000163871\|RCV001460015\|RCV001721057;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MedGen:C3661900	3	10191608	10191608	3:g.10191608C>T	ClinGen:CA020522	C0027672 Hereditary cancer-predisposing syndrome;
NM_000551.4(VHL):c.602T>C (p.Leu201Pro)	7428	VHL	Likely pathogenic	2125130793	RCV001786527;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10191609	10191609	10191609	-
NM_000551.4(VHL):c.603G>C (p.Leu201=)	7428	VHL	Likely benign	-1	RCV002584179;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10191610	10191610		-
NM_000551.4(VHL):c.605C>T (p.Thr202Ile)	7428	VHL	Uncertain significance	779514074	RCV000467837\|RCV002356705\|RCV003153642\|RCV003463964;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MO	3	10191612	10191612	NC_000003.11:g.10191612C>T	ClinGen:CA041863	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.606dup (p.Gln203fs)	7428	VHL	Uncertain significance	1696365502	RCV001203962;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10191612	10191613	3:g.10191612_10191613insA	-
NM_000551.4(VHL):c.606A>G (p.Thr202=)	7428	VHL	Likely benign	1575932637	RCV000922126;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10191613	10191613	3:g.10191613A>G	-
NM_000551.4(VHL):c.606A>C (p.Thr202=)	7428	VHL	Likely benign	1575932637	RCV001398922\|RCV002354791;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10191613	10191613	3:g.10191613A>C	-
NM_000551.4(VHL):c.607C>T (p.Gln203Ter)	7428	VHL	Uncertain significance	750711842	RCV001971262;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10191614	10191614	10191614	-
NM_000551.4(VHL):c.607C>A (p.Gln203Lys)	7428	VHL	Uncertain significance	750711842	RCV001977317\|RCV003170281\|RCV003320863;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374	3	10191614	10191614	10191614	-
NM_000551.4(VHL):c.608A>G (p.Gln203Arg)	7428	VHL	Uncertain significance	1270568049	RCV000564767\|RCV001347561\|RCV003459406;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10191615	10191615	NC_000003.11:g.10191615A>G	ClinGen:CA351756617	C0027672 Hereditary cancer-predisposing syndrome;
NM_000551.4(VHL):c.610G>T (p.Glu204Ter)	7428	VHL	Uncertain significance	758853661	RCV000631268\|RCV002358758;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10191617	10191617	3:g.10191617G>T	ClinGen:CA041909	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.610G>C (p.Glu204Gln)	7428	VHL	Uncertain significance	758853661	RCV000695732\|RCV002268256\|RCV003303150;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557\|MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10191617	10191617	NC_000003.11:g.10191617G>C	-	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.612G>A (p.Glu204=)	7428	VHL	Likely benign	747805018	RCV000472769\|RCV000560971\|RCV001703841;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	3	10191619	10191619	3:g.10191619G>A	ClinGen:CA041926	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.613C>T (p.Arg205Cys)	7428	VHL	Conflicting interpretations of pathogenicity	199926195	RCV000471333\|RCV000481600\|RCV002356704;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10191620	10191620	NC_000003.11:g.10191620C>T	ClinGen:CA041940	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.613C>G (p.Arg205Gly)	7428	VHL	Uncertain significance	199926195	RCV000686910\|RCV002352119\|RCV003459667;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10191620	10191620	3:g.10191620C>G	-	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.613C>A (p.Arg205Ser)	7428	VHL	Uncertain significance	199926195	RCV001909726;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10191620	10191620	10191620	-
NM_000551.4(VHL):c.614G>A (p.Arg205His)	7428	VHL	Conflicting interpretations of pathogenicity	777130107	RCV000481472\|RCV000631259\|RCV000764460\|RCV001024946;	N	MedGen:C3661900\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0007763,MedGen:CN074294,OMIM:144700,Orp	3	10191621	10191621	3:g.10191621G>A	ClinGen:CA041951	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.614G>T (p.Arg205Leu)	7428	VHL	Uncertain significance	777130107	RCV000526063\|RCV002358439;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10191621	10191621	3:g.10191621G>T	ClinGen:CA351756661	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.616A>G (p.Ile206Val)	7428	VHL	Uncertain significance	-1	RCV003072220;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10191623	10191623	NC_000003.11:g.10191623A>G	-
NM_000551.4(VHL):c.617_618delinsAG (p.Ile206Lys)	7428	VHL	Uncertain significance	1060503567	RCV000461877;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10191624	10191625	NC_000003.11:g.10191624_10191625delinsAG	ClinGen:CA16611072	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.618T>C (p.Ile206=)	7428	VHL	Likely benign	1575932691	RCV000827539\|RCV002062215;	N	MedGen:CN517202\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10191625	10191625	3:g.10191625T>C	-
NM_000551.4(VHL):c.619G>A (p.Ala207Thr)	7428	VHL	Uncertain significance	1696366320	RCV001345169;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10191626	10191626	10191626	-
NM_000551.4(VHL):c.619_620delinsAA (p.Ala207Lys)	7428	VHL	Uncertain significance	2125130853	RCV001882284;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10191626	10191627	10191626	-
NM_000551.4(VHL):c.620C>T (p.Ala207Val)	7428	VHL	Conflicting interpretations of pathogenicity	1060503549	RCV000461637\|RCV002365666\|RCV003317228;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	3	10191627	10191627	NC_000003.11:g.10191627C>T	ClinGen:CA16611076	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.622C>T (p.His208Tyr)	7428	VHL	Uncertain significance	121913347	RCV001240444\|RCV002366062;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10191629	10191629	3:g.10191629C>T	-
NM_000551.4(VHL):c.623A>G (p.His208Arg)	7428	VHL	Uncertain significance	1696366534	RCV001345898;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10191630	10191630	10191630	-
NM_000551.4(VHL):c.625C>G (p.Gln209Glu)	7428	VHL	Uncertain significance	1559429968	RCV000686219;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10191632	10191632	NC_000003.11:g.10191632C>G	-	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.626A>G (p.Gln209Arg)	7428	VHL	Uncertain significance	770746627	RCV001025058\|RCV002550907;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10191633	10191633	3:g.10191633A>G	-
NM_000551.4(VHL):c.627A>G (p.Gln209=)	7428	VHL	Likely benign	758494789	RCV001025071\|RCV001466194\|RCV001697883;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MedGen:C3661900	3	10191634	10191634	3:g.10191634A>G	ClinGen:CA70052691	CN169374 not specified;
NM_000551.4(VHL):c.627A>T (p.Gln209His)	7428	VHL	Uncertain significance	758494789	RCV001361052\|RCV002357223;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	3	10191634	10191634	10191634	-
NM_000551.4(VHL):c.628C>T (p.Arg210Trp)	7428	VHL	Conflicting interpretations of pathogenicity	774380450	RCV000204248\|RCV000568942\|RCV000662950\|RCV001582712\|RCV002467673\|RCV003468958;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|Me	3	10191635	10191635	NC_000003.11:g.10191635C>T	ClinGen:CA041992	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.629G>A (p.Arg210Gln)	7428	VHL	Conflicting interpretations of pathogenicity	138780791	RCV000115743\|RCV000119153\|RCV000492305\|RCV000627744\|RCV002267856;	N	MedGen:C3661900\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Or	3	10191636	10191636	3:g.10191636G>A	ClinGen:CA020530	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.630del (p.Met211fs)	7428	VHL	Uncertain significance	2125130871	RCV001904882;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10191636	10191636	10191635	-
NM_000551.4(VHL):c.630G>A (p.Arg210=)	7428	VHL	Likely benign	1575932755	RCV001464487;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10191637	10191637	3:g.10191637G>A	-
NM_000551.4(VHL):c.631A>C (p.Met211Leu)	7428	VHL	Conflicting interpretations of pathogenicity	200019083	RCV000161101\|RCV000287076\|RCV000541199\|RCV001025130\|RCV001704152;	N	MedGen:CN169374\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Or	3	10191638	10191638	NC_000003.11:g.10191638A>C	ClinGen:CA020534	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.632T>C (p.Met211Thr)	7428	VHL	Uncertain significance	1366708242	RCV000792729;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10191639	10191639	3:g.10191639T>C	-
NM_000551.4(VHL):c.633G>A (p.Met211Ile)	7428	VHL	Uncertain significance	-1	RCV002619566;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10191640	10191640	NC_000003.11:g.10191640G>A	-
NM_000551.4(VHL):c.634G>T (p.Gly212Ter)	7428	VHL	Uncertain significance	1553620389	RCV000508553\|RCV000556062\|RCV000575054\|RCV002490859\|RCV003464094;	N	MedGen:CN169374\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400	3	10191641	10191641	NC_000003.11:g.10191641G>T	ClinGen:CA351756706	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.634G>A (p.Gly212Arg)	7428	VHL	Uncertain significance	1553620389	RCV001071426;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10191641	10191641	3:g.10191641G>A	-
NM_000551.4(VHL):c.639_642dup (p.Asp213_Ter214=)	7428	VHL	Uncertain significance	1696368069	RCV001341865;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10191643	10191644	10191643	-
NM_000551.4(VHL):c.637G>C (p.Asp213His)	7428	VHL	Uncertain significance	1696367993	RCV001885741\|RCV002490092;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0007763,MedGen:CN074294,OMIM:144700, Orphanet:422526;	3	10191644	10191644	10191644	-
NM_000551.4(VHL):c.638A>G (p.Asp213Gly)	7428	VHL	Uncertain significance	1553620394	RCV000631283;	N	MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10191645	10191645	NC_000003.11:g.10191645A>G	ClinGen:CA351756715	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.639T>C (p.Asp213=)	7428	VHL	Conflicting interpretations of pathogenicity	775624944	RCV000342034\|RCV000679045\|RCV001025221\|RCV001081661;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300	3	10191646	10191646	3:g.10191646T>C	ClinGen:CA042035	C1837915 263400 Erythrocytosis, familial, 2;
NM_000551.4(VHL):c.639T>G (p.Asp213Glu)	7428	VHL	Uncertain significance	-1	RCV002361550\|RCV003098232;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10191646	10191646	10191646	-
NM_000551.4(VHL):c.640T>A (p.Ter214Arg)	7428	VHL	Conflicting interpretations of pathogenicity	1575932781	RCV000987111\|RCV001025239\|RCV002550599;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892; MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557	3	10191647	10191647	3:g.10191647T>A	-
NM_000551.4(VHL):c.641G>T (p.Ter214Leu)	7428	VHL	Likely pathogenic	869025668	RCV000208844;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10191648	10191648	NC_000003.11:g.10191648G>T	ClinGen:CA357103	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.642A>G (p.Ter214Trp)	7428	VHL	Likely pathogenic	1559430011	RCV000767298;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10191649	10191649	NC_000003.11:g.10191649A>G	-
NM_000551.4(VHL):c.642A>T (p.Ter214Cys)	7428	VHL	Likely pathogenic	1559430011	RCV000767299;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10191649	10191649	NC_000003.11:g.10191649A>T	-
NM_000551.4(VHL):c.*7C>G	7428	VHL	Uncertain significance	778005138	RCV000410217\|RCV001298865;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10191656	10191656	3:g.10191656C>G	ClinGen:CA16042064	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.*20C>A	7428	VHL	Uncertain significance	1696369145	RCV001145866;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10191669	10191669	3:g.10191669C>A	-
NM_000551.4(VHL):c.*70C>T	7428	VHL	Benign/Likely benign	552290225	RCV001145867\|RCV001512864\|RCV001530804\|RCV002259085;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400, Orphanet:238557; MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Or	3	10191719	10191719	3:g.10191719C>T	-
NM_000551.4(VHL):c.266_269del	7428	VHL	Uncertain significance	886057704	RCV000400790;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10191913	10191916	3:g.10191913_10191916del	ClinGen:CA10616664	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.*275C>T	7428	VHL	Uncertain significance	1696376132	RCV001145868;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10191924	10191924	3:g.10191924C>T	-
NM_000551.4(VHL):c.*280A>G	7428	VHL	Uncertain significance	886057705	RCV000307186;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10191929	10191929	3:g.10191929A>G	ClinGen:CA10614390	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.*294G>A	7428	VHL	Benign	1642742	RCV000348075\|RCV001613128;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892\|MedGen:C3661900	3	10191943	10191943	3:g.10191943G>A	ClinGen:CA10614392	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.*303A>T	7428	VHL	Benign	573000980	RCV000393512;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10191952	10191952	3:g.10191952A>T	ClinGen:CA10614821	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.*327G>A	7428	VHL	Uncertain significance	1247645604	RCV001148638;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10191976	10191976	3:g.10191976G>A	-
NM_000551.4(VHL):c.*349G>T	7428	VHL	Uncertain significance	886057706	RCV000313063;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10191998	10191998	3:g.10191998G>T	ClinGen:CA10614396	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.*370A>G	7428	VHL	Uncertain significance	576059326	RCV001148639;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10192019	10192019	3:g.10192019A>G	-
NM_000551.4(VHL):c.*385del	7428	VHL	Uncertain significance	886057707	RCV000367812;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10192034	10192034	3:g.10192034_10192034del	ClinGen:CA10616665	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.*391C>T	7428	VHL	Benign	138178021	RCV001148640;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10192040	10192040	3:g.10192040C>T	-
NM_000551.4(VHL):c.*392G>A	7428	VHL	Uncertain significance	886057708	RCV000277950;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10192041	10192041	NC_000003.11:g.10192041G>A	ClinGen:CA10614397	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.*432C>G	7428	VHL	Uncertain significance	1230198427	RCV001148641;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10192081	10192081	3:g.10192081C>G	-
NM_000551.4(VHL):c.*448G>T	7428	VHL	Uncertain significance	886057709	RCV000314351;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10192097	10192097	NC_000003.11:g.10192097G>T	ClinGen:CA10616669	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.*452G>A	7428	VHL	Uncertain significance	866994372	RCV001148642;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10192101	10192101	3:g.10192101G>A	-
NM_000551.4(VHL):c.*523del	7428	VHL	Likely benign	546118793	RCV000355171;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10192171	10192171	NC_000003.11:g.10192172del	ClinGen:CA10616746	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.*522G>C	7428	VHL	Uncertain significance	1696383500	RCV001148643;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10192171	10192171	3:g.10192171G>C	-
NM_000551.4(VHL):c.*572T>A	7428	VHL	Uncertain significance	1345623222	RCV001148644;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10192221	10192221	3:g.10192221T>A	-
NM_000551.4(VHL):c.*574T>C	7428	VHL	Benign	143062510	RCV000260349;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10192223	10192223	NC_000003.11:g.10192223T>C	ClinGen:CA10616747	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.*579G>C	7428	VHL	Uncertain significance	761456338	RCV001150215;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10192228	10192228	3:g.10192228G>C	-
NM_000551.4(VHL):c.*597G>A	7428	VHL	Uncertain significance	886057711	RCV000320162;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10192246	10192246	NC_000003.11:g.10192246G>A	ClinGen:CA10616750	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.*635G>A	7428	VHL	Uncertain significance	886057712	RCV000374764;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10192284	10192284	NC_000003.11:g.10192284G>A	ClinGen:CA10614822	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.*687C>A	7428	VHL	Uncertain significance	886057713	RCV000266210;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10192336	10192336	NC_000003.11:g.10192336C>A	ClinGen:CA10614398	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.*713T>C	7428	VHL	Benign	13090098	RCV001150216;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10192362	10192362	3:g.10192362T>C	-
NM_000551.4(VHL):c.*718T>C	7428	VHL	Benign	116182840	RCV001150217;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10192367	10192367	3:g.10192367T>C	-
NM_000551.4(VHL):c.*724T>G	7428	VHL	Benign	13090104	RCV000321204;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10192373	10192373	NC_000003.11:g.10192373T>G	ClinGen:CA10614401	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.*816G>C	7428	VHL	Uncertain significance	142396182	RCV000380509;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10192465	10192465	NC_000003.11:g.10192465G>C	ClinGen:CA10614823	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.*820A>G	7428	VHL	Benign	182781943	RCV000286130;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10192469	10192469	NC_000003.11:g.10192469A>G	ClinGen:CA10616670	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.*823G>A	7428	VHL	Likely benign	7629500	RCV000345717;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10192472	10192472	NC_000003.11:g.10192472G>A	ClinGen:CA10614403	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.*876G>A	7428	VHL	Uncertain significance	1037001327	RCV001144073;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10192525	10192525	3:g.10192525G>A	-
NM_000551.4(VHL):c.*885T>G	7428	VHL	Uncertain significance	998479331	RCV001144074;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10192534	10192534	3:g.10192534T>G	-
NM_000551.4(VHL):c.*923GTTTT[5]	7428	VHL	Likely benign	544983652	RCV000381464;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10192569	10192570	NC_000003.11:g.10192572GTTTT[5]	ClinGen:CA10616751	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.*989C>T	7428	VHL	Uncertain significance	186084634	RCV000291774;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10192638	10192638	NC_000003.11:g.10192638C>T	ClinGen:CA10614826	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.*1001T>C	7428	VHL	Uncertain significance	1696395449	RCV001144075;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10192650	10192650	3:g.10192650T>C	-
NM_000551.4(VHL):c.*1023G>A	7428	VHL	Benign	1681669	RCV000346706;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10192672	10192672	NC_000003.11:g.10192672G>A	ClinGen:CA10614404	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.*1060C>T	7428	VHL	Benign	1681668	RCV000398718;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10192709	10192709	NC_000003.11:g.10192709C>T	ClinGen:CA10616671	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.*1072C>T	7428	VHL	Uncertain significance	886057715	RCV000311771;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10192721	10192721	NC_000003.11:g.10192721C>T	ClinGen:CA10616752	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.*1087G>A	7428	VHL	Uncertain significance	889996347	RCV001145973;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10192736	10192736	3:g.10192736G>A	-
NM_000551.4(VHL):c.*1114C>A	7428	VHL	Uncertain significance	1696399406	RCV001145974;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10192763	10192763	3:g.10192763C>A	-
NM_000551.4(VHL):c.*1172C>T	7428	VHL	Uncertain significance	528852958	RCV000352519;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10192821	10192821	NC_000003.11:g.10192821C>T	ClinGen:CA10614828	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.*1181G>C	7428	VHL	Benign	72563745	RCV001145975;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10192830	10192830	3:g.10192830G>C	-
NM_000551.4(VHL):c.*1207G>A	7428	VHL	Uncertain significance	139557214	RCV000391815;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10192856	10192856	NC_000003.11:g.10192856G>A	ClinGen:CA10616759	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.*1222A>G	7428	VHL	Benign	72563744	RCV001148757;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10192871	10192871	3:g.10192871A>G	-
NM_000551.4(VHL):c.*1249G>A	7428	VHL	Uncertain significance	886057716	RCV000298801;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10192898	10192898	NC_000003.11:g.10192898G>A	ClinGen:CA10614405	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.*1281A>G	7428	VHL	Uncertain significance	886057717	RCV000356735;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10192930	10192930	NC_000003.11:g.10192930A>G	ClinGen:CA10616672	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.*1301G>A	7428	VHL	Benign	541963428	RCV001148758;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10192950	10192950	3:g.10192950G>A	-
NM_000551.4(VHL):c.*1328C>A	7428	VHL	Benign	78562649	RCV000261860;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10192977	10192977	NC_000003.11:g.10192977C>A	ClinGen:CA10616675	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.*1330A>G	7428	VHL	Uncertain significance	886057718	RCV000303120;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10192979	10192979	NC_000003.11:g.10192979A>G	ClinGen:CA10616676	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.*1347C>A	7428	VHL	Uncertain significance	886057719	RCV000357870;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10192996	10192996	NC_000003.11:g.10192996C>A	ClinGen:CA10614829	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.*1351G>A	7428	VHL	Uncertain significance	905412506	RCV001148759;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10193000	10193000	3:g.10193000G>A	-
NM_000551.4(VHL):c.*1371A>G	7428	VHL	Uncertain significance	771759826	RCV000267914;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10193020	10193020	NC_000003.11:g.10193020A>G	ClinGen:CA10616760	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.*1419A>G	7428	VHL	Benign	141916278	RCV000323041;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10193068	10193068	NC_000003.11:g.10193068A>G	ClinGen:CA10616677	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.*1452A>T	7428	VHL	Benign	552760935	RCV000382337;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10193101	10193101	NC_000003.11:g.10193101A>T	ClinGen:CA10616761	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.*1465C>A	7428	VHL	Likely benign	183067022	RCV000268660;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10193114	10193114	NC_000003.11:g.10193114C>A	ClinGen:CA10616762	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.*1481G>A	7428	VHL	Uncertain significance	886057720	RCV000328954;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10193130	10193130	3:g.10193130G>A	ClinGen:CA10616769	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.*1513A>G	7428	VHL	Uncertain significance	538580892	RCV000383520;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10193162	10193162	3:g.10193162A>G	ClinGen:CA10614830	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.*1542C>A	7428	VHL	Uncertain significance	1266903436	RCV001253935;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10193191	10193191	3:g.10193191C>A	-
NM_000551.4(VHL):c.*1617G>T	7428	VHL	Uncertain significance	886057721	RCV000293775;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10193266	10193266	3:g.10193266G>T	ClinGen:CA10614831	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.*1619T>C	7428	VHL	Benign	145608408	RCV000348734;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10193268	10193268	3:g.10193268T>C	ClinGen:CA10614834	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.*1643C>A	7428	VHL	Uncertain significance	886057722	RCV000389198;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10193292	10193292	3:g.10193292C>A	ClinGen:CA10614407	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.*1677C>T	7428	VHL	Uncertain significance	886057723	RCV000294800;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10193326	10193326	3:g.10193326C>T	ClinGen:CA10616770	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.*1680T>C	7428	VHL	Benign	561087293	RCV000335848;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10193329	10193329	3:g.10193329T>C	ClinGen:CA10614408	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.*1689A>G	7428	VHL	Uncertain significance	1696413219	RCV001144187;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10193338	10193338	3:g.10193338A>G	-
NM_000551.4(VHL):c.*1691A>G	7428	VHL	Uncertain significance	539201437	RCV000400598;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10193340	10193340	3:g.10193340A>G	ClinGen:CA10616679	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.*1721C>G	7428	VHL	Benign	574191130	RCV000282332;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10193370	10193370	3:g.10193370C>G	ClinGen:CA10614835	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.*1741G>T	7428	VHL	Uncertain significance	886057724	RCV000337374;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10193390	10193390	3:g.10193390G>T	ClinGen:CA10614840	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.*1759A>G	7428	VHL	Benign	114732761	RCV001144188;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10193408	10193408	3:g.10193408A>G	-
NM_000551.4(VHL):c.*1780C>G	7428	VHL	Uncertain significance	886057725	RCV000399751;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10193429	10193429	3:g.10193429C>G	ClinGen:CA10616773	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.*1782T>G	7428	VHL	Uncertain significance	886057726	RCV000302145;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10193431	10193431	3:g.10193431T>G	ClinGen:CA10616680	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.*1787G>A	7428	VHL	Benign	115303528	RCV001144189;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10193436	10193436	3:g.10193436G>A	-
NM_000551.4(VHL):c.*1808A>G	7428	VHL	Uncertain significance	886057727	RCV000361788;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10193457	10193457	3:g.10193457A>G	ClinGen:CA10614841	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.*1829G>A	7428	VHL	Uncertain significance	757233828	RCV001144190;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10193478	10193478	3:g.10193478G>A	-
NM_000551.4(VHL):c.*1852T>C	7428	VHL	Uncertain significance	1356745170	RCV001146083;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10193501	10193501	3:g.10193501T>C	-
NM_000551.4(VHL):c.*1860A>G	7428	VHL	Benign	458106	RCV000391013;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10193509	10193509	3:g.10193509A>G	ClinGen:CA10614409	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.*1867A>G	7428	VHL	Benign	566885734	RCV000308162;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10193516	10193516	3:g.10193516A>G	ClinGen:CA10614410	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.*1878T>C	7428	VHL	Uncertain significance	1454245545	RCV001146084;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10193527	10193527	3:g.10193527T>C	-
NM_000551.4(VHL):c.*1887C>A	7428	VHL	Uncertain significance	886057728	RCV000362884;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10193536	10193536	3:g.10193536C>A	ClinGen:CA10614415	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.*1913T>C	7428	VHL	Uncertain significance	1696419066	RCV001146085;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10193562	10193562	3:g.10193562T>C	-
NM_000551.4(VHL):c.*1922G>A	7428	VHL	Uncertain significance	886057729	RCV000273106;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10193571	10193571	3:g.10193571G>A	ClinGen:CA10614842	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.*1947A>T	7428	VHL	Benign	546263769	RCV001146086;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10193596	10193596	3:g.10193596A>T	-
NM_000551.4(VHL):c.*1960G>A	7428	VHL	Likely benign	9822696	RCV000328130;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10193609	10193609	3:g.10193609G>A	ClinGen:CA10616774	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.1973_1979del	7428	VHL	Benign	149248243	RCV000368915;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10193622	10193628	NC_000003.11:g.10193622_10193628del	ClinGen:CA10614844	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.*1990G>A	7428	VHL	Benign	113678809	RCV000274323;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10193639	10193639	NC_000003.11:g.10193639G>A	ClinGen:CA10616775	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.*2034T>A	7428	VHL	Uncertain significance	1136249	RCV000334146;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10193683	10193683	NC_000003.11:g.10193683T>A	ClinGen:CA10614417	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.*2034T>G	7428	VHL	Benign	1136249	RCV000388711;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10193683	10193683	NC_000003.11:g.10193683T>G	ClinGen:CA10616681	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.*2090del	7428	VHL	Uncertain significance	886057730	RCV000278100;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10193739	10193739	NC_000003.11:g.10193739del	ClinGen:CA10614860	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.*2093del	7428	VHL	Uncertain significance	886057731	RCV000316802;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10193741	10193741	NC_000003.11:g.10193742del	ClinGen:CA10616778	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.*2094del	7428	VHL	Uncertain significance	886057732	RCV000376024;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10193743	10193743	NC_000003.11:g.10193743del	ClinGen:CA10614418	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.*2117del	7428	VHL	Uncertain significance	757106274	RCV000283892;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10193745	10193745	NC_000003.11:g.10193766del	ClinGen:CA10616686	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.*2118del	7428	VHL	Uncertain significance	886057733	RCV000341106;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10193767	10193767	NC_000003.11:g.10193767del	ClinGen:CA10616687	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.*2140C>T	7428	VHL	Benign	140614750	RCV000390342;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10193789	10193789	NC_000003.11:g.10193789C>T	ClinGen:CA10616780	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.*2201G>A	7428	VHL	Benign	145666034	RCV001148876;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10193850	10193850	3:g.10193850G>A	-
NM_000551.4(VHL):c.*2224A>G	7428	VHL	Uncertain significance	886057734	RCV000287204;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10193873	10193873	NC_000003.11:g.10193873A>G	ClinGen:CA10616696	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.*2272C>T	7428	VHL	Uncertain significance	1035906615	RCV001148877;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10193921	10193921	3:g.10193921C>T	-
NM_000551.4(VHL):c.*2341T>C	7428	VHL	Uncertain significance	973162600	RCV001150397;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10193990	10193990	3:g.10193990T>C	-
NM_000551.4(VHL):c.*2419dup	7428	VHL	Uncertain significance	564788050	RCV000344470;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10194053	10194054	NC_000003.11:g.10194068dup	ClinGen:CA10616781	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.*2432T>G	7428	VHL	Uncertain significance	886057736	RCV000401488;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10194081	10194081	NC_000003.11:g.10194081T>G	ClinGen:CA10616698	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.*2464A>G	7428	VHL	Uncertain significance	1039347276	RCV001150398;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10194113	10194113	3:g.10194113A>G	-
NM_000551.4(VHL):c.*2468C>T	7428	VHL	Benign	138237298	RCV000309551;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10194117	10194117	NC_000003.11:g.10194117C>T	ClinGen:CA10616782	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.*2545del	7428	VHL	Uncertain significance	71052299	RCV000312702;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10194166	10194166	NC_000003.11:g.10194194del	ClinGen:CA10614421	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.2540_2545del	7428	VHL	Uncertain significance	71052299	RCV000393829;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10194166	10194171	NC_000003.11:g.10194189_10194194del	ClinGen:CA10616785	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.2541_2546del	7428	VHL	Uncertain significance	886057738	RCV000369674;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10194190	10194195	NC_000003.11:g.10194190_10194195del	ClinGen:CA10616786	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.2543_2546del	7428	VHL	Uncertain significance	886057739	RCV000277704;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10194192	10194195	NC_000003.11:g.10194192_10194195del	ClinGen:CA10616787	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.*2546GA[1]	7428	VHL	Uncertain significance	886057740	RCV000316457;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10194195	10194196	NC_000003.11:g.10194195GA[1]	ClinGen:CA10614425	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.*2548G>A	7428	VHL	Benign	187719061	RCV000354783;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10194197	10194197	NC_000003.11:g.10194197G>A	ClinGen:CA10616699	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.*2562C>T	7428	VHL	Uncertain significance	747406421	RCV000262403;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10194211	10194211	NC_000003.11:g.10194211C>T	ClinGen:CA10614861	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.*2570C>T	7428	VHL	Uncertain significance	909427137	RCV001150399;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10194219	10194219	3:g.10194219C>T	-
NM_000551.4(VHL):c.*2571A>G	7428	VHL	Uncertain significance	886057741	RCV000319407;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10194220	10194220	NC_000003.11:g.10194220A>G	ClinGen:CA10614863	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.*2594C>A	7428	VHL	Benign	191582744	RCV000376346;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10194243	10194243	NC_000003.11:g.10194243C>A	ClinGen:CA10614867	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.*2600T>A	7428	VHL	Benign	142728549	RCV000284269;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10194249	10194249	NC_000003.11:g.10194249T>A	ClinGen:CA10614868	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.*2647C>A	7428	VHL	Uncertain significance	886057742	RCV000322994;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10194296	10194296	NC_000003.11:g.10194296C>A	ClinGen:CA10614869	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.*2660T>A	7428	VHL	Uncertain significance	886057743	RCV000379981;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10194309	10194309	NC_000003.11:g.10194309T>A	ClinGen:CA10614873	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.*2670G>C	7428	VHL	Uncertain significance	886057744	RCV000287530;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10194319	10194319	NC_000003.11:g.10194319G>C	ClinGen:CA10616702	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.*2681C>T	7428	VHL	Uncertain significance	1696442933	RCV001144306;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10194330	10194330	3:g.10194330C>T	-
NM_000551.4(VHL):c.*2715C>T	7428	VHL	Benign	578053681	RCV000344817;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10194364	10194364	3:g.10194364C>T	ClinGen:CA10616703	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.*2716G>A	7428	VHL	Benign	538719970	RCV000383011;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10194365	10194365	3:g.10194365G>A	ClinGen:CA10616706	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.*2738G>A	7428	VHL	Uncertain significance	886057745	RCV000291499;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10194387	10194387	3:g.10194387G>A	ClinGen:CA10614874	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.*2762T>C	7428	VHL	Uncertain significance	886057746	RCV000348799;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10194411	10194411	3:g.10194411T>C	ClinGen:CA10616789	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.*2782C>G	7428	VHL	Uncertain significance	886057747	RCV000398761;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10194431	10194431	3:g.10194431C>G	ClinGen:CA10614426	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.*2812A>C	7428	VHL	Uncertain significance	886057748	RCV000313775;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10194461	10194461	3:g.10194461A>C	ClinGen:CA10614427	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.*2854G>T	7428	VHL	Uncertain significance	546347626	RCV000352051;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10194503	10194503	3:g.10194503G>T	ClinGen:CA10616707	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.*2893G>A	7428	VHL	Uncertain significance	777358147	RCV001144307;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10194542	10194542	3:g.10194542G>A	-
NM_000551.4(VHL):c.*2904A>G	7428	VHL	Uncertain significance	1339328787	RCV001144308;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10194553	10194553	3:g.10194553A>G	-
NM_000551.4(VHL):c.*2919T>A	7428	VHL	Uncertain significance	1335170233	RCV001146199;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10194568	10194568	3:g.10194568T>A	-
NM_000551.4(VHL):c.*2937G>A	7428	VHL	Uncertain significance	922231519	RCV001146200;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10194586	10194586	3:g.10194586G>A	-
NM_000551.4(VHL):c.*2960C>A	7428	VHL	Uncertain significance	886057749	RCV000399476;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10194609	10194609	3:g.10194609C>A	ClinGen:CA10616790	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.*2975G>C	7428	VHL	Benign	801913	RCV000298373;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10194624	10194624	3:g.10194624G>C	ClinGen:CA10614428	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.*2988G>A	7428	VHL	Uncertain significance	886057750	RCV000355621;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10194637	10194637	3:g.10194637G>A	ClinGen:CA10616708	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.*3021T>C	7428	VHL	Benign	138933035	RCV000264636;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10194670	10194670	3:g.10194670T>C	ClinGen:CA10616718	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.*3040G>A	7428	VHL	Uncertain significance	923804041	RCV001146201;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10194689	10194689	3:g.10194689G>A	-
NM_000551.4(VHL):c.*3097G>A	7428	VHL	Benign	149416955	RCV001146202;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10194746	10194746	3:g.10194746G>A	-
NM_000551.4(VHL):c.*3128G>A	7428	VHL	Uncertain significance	886057751	RCV000303394;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10194777	10194777	3:g.10194777G>A	ClinGen:CA10614429	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.*3205C>T	7428	VHL	Uncertain significance	561918442	RCV000360421;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10194854	10194854	3:g.10194854C>T	ClinGen:CA10616719	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.*3222A>G	7428	VHL	Uncertain significance	886057752	RCV000268100;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10194871	10194871	3:g.10194871A>G	ClinGen:CA10614432	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.*3249C>T	7428	VHL	Uncertain significance	886057753	RCV000325706;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10194898	10194898	3:g.10194898C>T	ClinGen:CA10616792	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.*3261T>C	7428	VHL	Uncertain significance	886057754	RCV000382679;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10194910	10194910	3:g.10194910T>C	ClinGen:CA10614433	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.*3307C>T	7428	VHL	Uncertain significance	1236502754	RCV001149000;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10194956	10194956	3:g.10194956C>T	-
NM_000551.4(VHL):c.*3323ACAAAAA[3]	7428	VHL	Uncertain significance	886057755	RCV000271864;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10194966	10194967	3:g.10194966_10194967insAAAAAAC	ClinGen:CA10614434	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.*3352G>A	7428	VHL	Benign	112130915	RCV000329203;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10195001	10195001	3:g.10195001G>A	ClinGen:CA10614436	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.*3374G>A	7428	VHL	Uncertain significance	144782223	RCV001149001;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10195023	10195023	3:g.10195023G>A	-
NM_000551.4(VHL):c.*3389G>A	7428	VHL	Uncertain significance	368247150	RCV000386212;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10195038	10195038	NC_000003.11:g.10195038G>A	ClinGen:CA10614439	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.*3395C>T	7428	VHL	Benign	184144719	RCV000294236;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10195044	10195044	NC_000003.11:g.10195044C>T	ClinGen:CA10616720	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.*3411C>T	7428	VHL	Uncertain significance	1696466386	RCV001149002;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10195060	10195060	3:g.10195060C>T	-
NM_000551.4(VHL):c.*3453A>G	7428	VHL	Benign	140044688	RCV001149003;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10195102	10195102	3:g.10195102A>G	-
NM_000551.4(VHL):c.*3470G>T	7428	VHL	Uncertain significance	886057756	RCV000351522;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10195119	10195119	NC_000003.11:g.10195119G>T	ClinGen:CA10614875	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.*3482dup	7428	VHL	Benign	148013887	RCV000389816;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10195124	10195125	NC_000003.11:g.10195131dup	ClinGen:CA10614877	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.3492_3493dup	7428	VHL	Likely benign	112494627	RCV000278168;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10195132	10195133	NC_000003.11:g.10195141_10195142dup	ClinGen:CA10614442	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.*3506G>T	7428	VHL	Uncertain significance	886057759	RCV000335528;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10195155	10195155	NC_000003.11:g.10195155G>T	ClinGen:CA10616793	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.*3523T>G	7428	VHL	Benign	17610448	RCV000390527;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10195172	10195172	NC_000003.11:g.10195172T>G	ClinGen:CA10616794	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.*3545C>A	7428	VHL	Uncertain significance	886057760	RCV000300404;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10195194	10195194	NC_000003.11:g.10195194C>A	ClinGen:CA10616796	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.*3603C>T	7428	VHL	Benign	145137834	RCV000340038;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10195252	10195252	NC_000003.11:g.10195252C>T	ClinGen:CA10616725	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.*3616C>T	7428	VHL	Uncertain significance	750516726	RCV000402326;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10195265	10195265	NC_000003.11:g.10195265C>T	ClinGen:CA10614880	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.*3617G>A	7428	VHL	Benign	527601820	RCV001150512;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10195266	10195266	3:g.10195266G>A	-
NM_000551.4(VHL):c.*3625T>A	7428	VHL	Uncertain significance	552161251	RCV000305023;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10195274	10195274	NC_000003.11:g.10195274T>A	ClinGen:CA10616728	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.3644_3645insG	7428	VHL	Benign	201632485	RCV000362042;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10195293	10195294	NC_000003.11:g.10195293_10195294insG	ClinGen:CA10614885	C0019562 193300 Von Hippel-Lindau syndrome;
NM_000551.4(VHL):c.3645_3646insGT	7428	VHL	Uncertain significance	1553620861	RCV000269542;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10195293	10195294	NC_000003.11:g.10195294_10195295insGT	ClinGen:CA10616797	C0019562 193300 Von Hippel-Lindau syndrome;

MSeqDR Portal

Feedback about the webpages , or email to MSeqDR webmaster: Lishuang Shen