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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, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, NARP, SANDO

Disease Browser
Parent Node: catecholamine-producing tumor (MONDO:0019116)
Parent Node: congenital nervous system disorder (MONDO:0002320)
Parent Node: familial cystic renal disease (MONDO:0019741)
Parent Node: genetic central nervous system and retinal vascular disease (MONDO:0015953)
Parent Node: hereditary eye tumor (MONDO:0015966)
Parent Node: inherited nervous system cancer-predisposing syndrome (MONDO:0016756)
Parent Node: inherited renal cancer-predisposing syndrome (MONDO:0017891)
Parent Node: malformation syndrome with hamartosis (MONDO:0020063)
Parent Node: multiple polyglandular tumor (MONDO:0015079)
Parent Node: nervous system neoplasm (MONDO:0021248)
Parent Node: neurocutaneous syndrome (MONDO:0042983)
Parent Node: rare disease with glaucoma as a major feature (MONDO:0020222)
Parent Node: syndromic developmental defect of the eye (MONDO:0015218)
..Starting node ..von Hippel-Lindau disease ()
Child Nodes:
Sister Nodes:
..ablepharon macrostomia syndrome ()
..Acrootoocular syndrome ()
..Aicardi syndrome ()
..Alagille syndrome ()
..ankyloblepharon filiforme adnatum-cleft palate syndrome ()
..ankyloblepharon-ectodermal defects-cleft lip/palate syndrome ()
..anterior segment dysgenesis 7 ()
..atrioventricular defect-blepharophimosis-radial and anal defect syndrome ()
..autosomal dominant popliteal pterygium syndrome ()
..Barber-Say syndrome ()
..blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome ()
..cat-eye syndrome ()
..cataract-aberrant oral frenula-growth delay syndrome ()
..cataract-hypertrichosis-intellectual disability syndrome ()
..cataract-intellectual disability-hypogonadism syndrome ()
..CHARGE syndrome ()
..CHIME syndrome ()
..chromosome 13q14 deletion syndrome ()
..classic homocystinuria ()
..colobomatous optic disc-macular atrophy-chorioretinopathy syndrome ()
..congenital cataract-ichthyosis syndrome ()
..congenital cataracts-facial dysmorphism-neuropathy syndrome ()
..corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome ()
..facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome ()
..familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome ()
..focal dermal hypoplasia ()
..Fraser syndrome ()
..frontofacionasal dysplasia ()
..glaucoma-sleep apnea syndrome ()
..GMS syndrome ()
..Goldenhar syndrome ()
..hypergonadotropic hypogonadism-cataract syndrome ()
..isolated Pierre-Robin syndrome ()
..Knobloch syndrome ()
..Laurence-Moon syndrome ()
..Lowry-MacLean syndrome ()
..macular coloboma-cleft palate-hallux valgus syndrome ()
..Marinesco-Sjogren syndrome ()
..Marshall syndrome ()
..megalocornea-intellectual disability syndrome ()
..Melnick-Needles syndrome ()
..microcornea-glaucoma-absent frontal sinuses syndrome ()
..microphthalmia with limb anomalies ()
..microspherophakia-metaphyseal dysplasia syndrome ()
..microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome ()
..Nager acrofacial dysostosis ()
..nasopalpebral lipoma-coloboma syndrome ()
..Nathalie syndrome ()
..Noonan syndrome-like disorder with loose anagen hair ()
..Norrie disease ()
..oculocerebrocutaneous syndrome ()
..oculocerebrofacial syndrome, Kaufman type ()
..oculocerebrorenal syndrome ()
..ophthalmomandibulomelic dysplasia ()
..Peters plus syndrome ()
..postaxial acrofacial dysostosis ()
..renal coloboma syndrome ()
..septooptic dysplasia ()
..SHORT syndrome ()
..Smith-Lemli-Opitz syndrome ()
..SRD5A3-CDG ()
..Stromme syndrome ()
..Sturge-Weber syndrome ()
..Treacher-Collins syndrome ()
..von Hippel-Lindau disease ()
..Williams syndrome ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

8667

Name:

von Hippel-Lindau disease

Definition:

Von Hippel-Lindau disease (VHL) is a familial cancer predisposition syndrome associated with a variety of malignant and benign neoplasms, most frequently retinal, cerebellar, and spinal hemangioblastoma, renal cell carcinoma (RCC), and pheochromocytoma.

Alternative IDs:

193300

ParentIDs:

TreeNumbers:

Synonyms:

cerebroretinal angiomatosis; familial cerebelloretinal angiomatosis; Hippel Lindau syndrome; Lindau disease; VHL; VHL syndrome; Von Hippel Lindau disease; VON Hippel-Lindau syndrome; Von Hippel-Lindau syndrome; von Hippel-Lindau syndrome; Von Hippel-Lindau syndrome (VHL); Von Hippel-Lindau syndrome,

Slim Mappings:

Reference:

MedGen:
MeSH:
OMIM: 193300;
MSeqDR :
Genes: CCND1; LRRK2; 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
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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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>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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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;
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_000003.12: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_000003.11: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.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;
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	-
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_000003.12: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)_(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_000003.11: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.(?_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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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>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.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.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.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.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.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.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.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.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.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>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.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.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>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.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.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.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>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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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>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+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+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.341-11T>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	-
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		-
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.341-2A>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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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>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+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		-
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_000003.12: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	-
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;
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.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.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.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.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.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.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.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.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.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.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.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.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>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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.597del (p.Glu199fs)	7428	VHL	Pathogenic	-1	RCV003233054;	N	MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300, Orphanet:892	3	10191604	10191604		-
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_000551.4(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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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>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.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.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.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.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.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>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.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.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.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.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.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.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.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	-
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_?)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.(?_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	-
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.-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	-
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_000003.11: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_?)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)_(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_?)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;
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.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.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.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.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.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.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.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.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.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.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>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.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.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.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.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>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.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.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.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.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.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.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.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>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>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>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.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.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.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.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.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>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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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>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.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.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.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.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+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.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>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)_(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.341-1_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.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.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.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.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>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.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.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.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.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>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.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.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.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.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>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.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.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.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.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.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.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.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.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.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>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.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>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.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.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.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.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.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.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.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.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.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.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+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.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_000003.11: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_000003.11: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	-
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.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.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.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.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.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.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>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.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.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>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.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.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.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.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.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>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.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.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.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.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.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.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.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.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.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.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>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.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.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.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.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.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>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.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.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.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.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.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.*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;

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