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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

Hearing Loss Disease Portal

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

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

Term ID:

11661

Name:

von Hippel-Lindau Disease

Definition:

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

Alternative IDs:

OMIM:193300

ParentIDs:

MESH:D000798|MESH:D020752

TreeNumbers:

C10.562.925 |C14.907.077.925

Synonyms:

Slim Mappings:

Cardiovascular disease|Nervous system disease

Reference:

MedGen: D006623
MeSH: D006623
OMIM: 193300;

Genes: CCND1; VHL;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0001392	Abnormality of the liver
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
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_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_000551.3(VHL):c.-75_-55del21	7428	VHL	Likely pathogenic	727503744	RCV000152657;	N	MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004	3	10183457	10183477	NM_000551.3:c.-75_-55del21		NC_000003.11:g.10183457_10183477del21	-	C0019562 193300 Von Hippel-Lindau syndrome
NM_000551.3(VHL):c.5C>T (p.Pro2Leu)	7428	VHL	Uncertain significance	111246617	RCV000168429; RCV000161089;	N	MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004; MedGen:CN169374	3	10183536	10183536	NM_000551.3:c.5C>T	NP_000542.1:p.Pro2Leu	NC_000003.11:g.10183536C>T	-	CN169374 not specified; C0019562 193300 Von Hippel-Lindau syndrome
NM_000551.3(VHL):c.14C>T (p.Ala5Val)	7428	VHL	Uncertain significance	755333116	RCV000195431;	N	MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004	3	10183545	10183545	NM_000551.3:c.14C>T	NP_000542.1:p.Ala5Val	NC_000003.11:g.10183545C>T	-	C0019562 193300 Von Hippel-Lindau syndrome
NM_000551.3(VHL):c.25G>A (p.Asp9Asn)	7428	VHL	Uncertain significance	587780730	RCV000123104;	N	MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004	3	10183556	10183556	NM_000551.3:c.25G>A	NP_000542.1:p.Asp9Asn	NC_000003.11:g.10183556G>A	-	C0019562 193300 Von Hippel-Lindau syndrome
NM_000551.3(VHL):c.29A>T (p.Glu10Val)	7428	VHL	Uncertain significance	786204065	RCV000167948;	N	MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004	3	10183560	10183560	NM_000551.3:c.29A>T	NP_000542.1:p.Glu10Val	NC_000003.11:g.10183560A>T	-	C0019562 193300 Von Hippel-Lindau syndrome
NM_000551.3(VHL):c.47A>C (p.Glu16Ala)	7428	VHL	Uncertain significance	864622379	RCV000204236;	N	MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004	3	10183578	10183578	NM_000551.3:c.47A>C	NP_000542.1:p.Glu16Ala	NC_000003.11:g.10183578A>C	-	C0019562 193300 Von Hippel-Lindau syndrome
NM_000551.3(VHL):c.74C>T (p.Pro25Leu)	7428	VHL	Benign;Likely benign	35460768	RCV000119213; RCV000079211; RCV000126300;	N	MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004; MedGen:C0027672,SNOMED CT:699346009; MedGen:CN169374	3	10183605	10183605	NM_000551.3:c.74C>T	NP_000542.1:p.Pro25Leu	NC_000003.11:g.10183605C>T	HGMD:CM981994	C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified; C0019562 193300 Von Hippel-Lindau syndrome
NM_000551.3(VHL):c.104C>A (p.Ala35Asp)	7428	VHL	Uncertain significance	587780536	RCV000119148;	N	MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004	3	10183635	10183635	NM_000551.3:c.104C>A	NP_000542.1:p.Ala35Asp	NC_000003.11:g.10183635C>A	-	C0019562 193300 Von Hippel-Lindau syndrome
NM_000551.3(VHL):c.114C>T (p.Ser38=)	7428	VHL	Likely benign	417164	RCV000204195;	N	MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004	3	10183645	10183645	NM_000551.3:c.114C>T	NP_000542.1:p.Ser38=	NC_000003.11:g.10183645C>T	-	C0019562 193300 Von Hippel-Lindau syndrome
NM_000551.3(VHL):c.119C>T (p.Pro40Leu)	7428	VHL	Uncertain significance	200343185	RCV000199012; RCV000122259;	N	MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004; MedGen:CN169374	3	10183650	10183650	NM_000551.3:c.119C>T	NP_000542.1:p.Pro40Leu	NC_000003.11:g.10183650C>T	-	CN169374 not specified; C0019562 193300 Von Hippel-Lindau syndrome
NM_000551.3(VHL):c.123_137delAGAGTCCGGCCCGGA (p.Ser43_Glu47del)	7428	VHL	Uncertain significance	863224839	RCV000197814; RCV000222096;	N	MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004; MedGen:C3280492,OMIM:614327,ORPHA:289539	3	10183654	10183668	NM_000551.3:c.123_137delAGAGTCCGGCCCGGA	NP_000542.1:p.Ser43_Glu47del	NC_000003.11:g.10183654_10183668delAGAGTCCGGCCCGGA	-	C3280492 614327 Tumor predisposition syndrome; C0019562 193300 Von Hippel-Lindau syndrome
NM_000551.3(VHL):c.129C>T (p.Ser43=)	7428	VHL	Likely benign	864622645	RCV000206204;	N	MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004	3	10183660	10183660	NM_000551.3:c.129C>T	NP_000542.1:p.Ser43=	NC_000003.11:g.10183660C>T	-	C0019562 193300 Von Hippel-Lindau syndrome
NM_000551.3(VHL):c.135G>A (p.Pro45=)	7428	VHL	Likely benign	773519476	RCV000198105;	N	MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004	3	10183666	10183666	NM_000551.3:c.135G>A	NP_000542.1:p.Pro45=	NC_000003.11:g.10183666G>A	-	C0019562 193300 Von Hippel-Lindau syndrome
NM_000551.3(VHL):c.150C>G (p.Ala50=)	7428	VHL	Benign;Likely benign	61751580	RCV000123101; RCV000036538; RCV000161100;	N	MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004; MedGen:C0027672,SNOMED CT:699346009; MedGen:CN169374	3	10183681	10183681	NM_000551.3:c.150C>G	NP_000542.1:p.Ala50=	NC_000003.11:g.10183681C>G	-	C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified; C0019562 193300 Von Hippel-Lindau syndrome
NM_000551.3(VHL):c.154G>A (p.Glu52Lys)	7428	VHL	Uncertain significance	373068386	RCV000148923;	N	MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004	3	10183685	10183685	NM_000551.3:c.154G>A	NP_000542.1:p.Glu52Lys	NC_000003.11:g.10183685G>A,NC_000003.11:g.10183685G>T	-	C0019562 193300 Von Hippel-Lindau syndrome
NM_000551.3(VHL):c.163dupG (p.Glu55Glyfs)	7428	VHL	Pathogenic	869025615	RCV000208829;	N	MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004	3	10183694	10183694	NM_000551.3:c.163dupG	NP_000542.1:p.Glu55Glyfs	NC_000003.11:g.10183694dupG	-	C0019562 193300 Von Hippel-Lindau syndrome
NM_000551.3(VHL):c.167C>T (p.Ala56Val)	7428	VHL	Uncertain significance	752980085	RCV000168239; RCV000219530;	N	MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004; MedGen:C3280492,OMIM:614327,ORPHA:289539	3	10183698	10183698	NM_000551.3:c.167C>T	NP_000542.1:p.Ala56Val	NC_000003.11:g.10183698C>T	-	C3280492 614327 Tumor predisposition syndrome; C0019562 193300 Von Hippel-Lindau syndrome
NM_000551.3(VHL):c.168C>G (p.Ala56=)	7428	VHL	Likely benign	864622714	RCV000204767;	N	MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004	3	10183699	10183699	NM_000551.3:c.168C>G	NP_000542.1:p.Ala56=	NC_000003.11:g.10183699C>G	-	C0019562 193300 Von Hippel-Lindau syndrome
NM_000551.3(VHL):c.183C>G (p.Pro61=)	7428	VHL	Benign;Likely benign;Uncertain significance	63650860	RCV000123102; RCV000173162; RCV000213076; RCV000161102;	N	MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004; MedGen:C0027672,SNOMED CT:699346009; MedGen:CN169374; MedGen:CN221809	3	10183714	10183714	NM_000551.3:c.183C>G	NP_000542.1:p.Pro61=	NC_000003.11:g.10183714C>G	-	C0027672 Hereditary cancer-predisposing syndrome; CN221809 not provided; CN169374 not specified; C0019562 193300 Von Hippel-Lindau syndrome
NM_000551.3(VHL):c.189_192delGCGC (p.Ser65Terfs)	7428	VHL	Pathogenic	869025647	RCV000208833;	N	MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004	3	10183720	10183723	NM_000551.3:c.189_192delGCGC	NP_000542.1:p.Ser65Terfs	NC_000003.11:g.10183720_10183723delGCGC	-	C0019562 193300 Von Hippel-Lindau syndrome
NM_000551.3(VHL):c.191G>C (p.Arg64Pro)	7428	VHL	Likely pathogenic;Pathogenic	104893826	RCV000208872; RCV000002314; RCV000132356;	N	MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004; MedGen:C0027672,SNOMED CT:699346009; MedGen:C0031511,OMIM:171300	3	10183722	10183722	NM_000551.3:c.191G>C	NP_000542.1:p.Arg64Pro	NC_000003.11:g.10183722G>A,NC_000003.11:g.10183722G>C	OMIM Allelic Variant:608537.0015	C0027672 Hereditary cancer-predisposing syndrome; C0031511 171300 Pheochromocytoma; C0019562 193300 Von Hippel-Lindau syndrome
NM_000551.3(VHL):c.191G>A (p.Arg64His)	7428	VHL	Uncertain significance	104893826	RCV000123103;	N	MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004	3	10183722	10183722	NM_000551.3:c.191G>A	NP_000542.1:p.Arg64His	NC_000003.11:g.10183722G>A,NC_000003.11:g.10183722G>C	-	C0019562 193300 Von Hippel-Lindau syndrome
NM_000551.3(VHL):c.193T>G (p.Ser65Ala)	7428	VHL	Likely pathogenic	869025616	RCV000208812;	N	MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004	3	10183724	10183724	NM_000551.3:c.193T>G	NP_000542.1:p.Ser65Ala	NC_000003.11:g.10183724T>G	-	C0019562 193300 Von Hippel-Lindau syndrome
NM_000551.3(VHL):c.194C>G (p.Ser65Trp)	7428	VHL	Pathogenic	5030826	RCV000036539;	N	MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004	3	10183725	10183725	NM_000551.3:c.194C>G	NP_000542.1:p.Ser65Trp	NC_000003.11:g.10183725C>G,NC_000003.11:g.10183725C>T	-	C0019562 193300 Von Hippel-Lindau syndrome
NM_000551.3(VHL):c.194C>T (p.Ser65Leu)	7428	VHL	Pathogenic	5030826	RCV000199197; RCV000161083;	N	MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004; MedGen:C0027672,SNOMED CT:699346009	3	10183725	10183725	NM_000551.3:c.194C>T	NP_000542.1:p.Ser65Leu	NC_000003.11:g.10183725C>G,NC_000003.11:g.10183725C>T	-	C0027672 Hereditary cancer-predisposing syndrome; C0019562 193300 Von Hippel-Lindau syndrome
NM_000551.3(VHL):c.194C>A (p.Ser65Ter)	7428	VHL	Pathogenic	5030826	RCV000208831;	N	MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004	3	10183725	10183725	NM_000551.3:c.194C>A	NP_000542.1:p.Ser65Ter		-	C0019562 193300 Von Hippel-Lindau syndrome
NM_000551.3(VHL):c.203C>A (p.Ser68Ter)	7428	VHL	Pathogenic	869025617	RCV000208815;	N	MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004	3	10183734	10183734	NM_000551.3:c.203C>A	NP_000542.1:p.Ser68Ter	NC_000003.11:g.10183734C>A	-	C0019562 193300 Von Hippel-Lindau syndrome
NM_000551.3(VHL):c.208G>A (p.Glu70Lys)	7428	VHL	Pathogenic	5030802	RCV000036540;	N	MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004	3	10183739	10183739	NM_000551.3:c.208G>A	NP_000542.1:p.Glu70Lys	NC_000003.11:g.10183739G>A	-	C0019562 193300 Von Hippel-Lindau syndrome
NM_000551.3(VHL):c.213C>T (p.Pro71=)	7428	VHL	Likely benign	201663073	RCV000199646;	N	MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004	3	10183744	10183744	NM_000551.3:c.213C>T	NP_000542.1:p.Pro71=	NC_000003.11:g.10183744C>T	-	C0019562 193300 Von Hippel-Lindau syndrome
NM_000551.3(VHL):c.214T>C (p.Ser72Pro)	7428	VHL	Likely pathogenic	869025618	RCV000208787;	N	MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004	3	10183745	10183745	NM_000551.3:c.214T>C	NP_000542.1:p.Ser72Pro	NC_000003.11:g.10183745T>C	-	C0019562 193300 Von Hippel-Lindau syndrome
NM_000551.3(VHL):c.217C>T (p.Gln73Ter)	7428	VHL	Pathogenic	869025619	RCV000208804;	N	MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004	3	10183748	10183748	NM_000551.3:c.217C>T	NP_000542.1:p.Gln73Ter	NC_000003.11:g.10183748C>T	-	C0019562 193300 Von Hippel-Lindau syndrome
NM_000551.3(VHL):c.221delT (p.Val74Alafs)	7428	VHL	Pathogenic	869025620	RCV000208849;	N	MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004	3	10183752	10183752	NM_000551.3:c.221delT	NP_000542.1:p.Val74Alafs	NC_000003.11:g.10183752delT	-	C0019562 193300 Von Hippel-Lindau syndrome
NM_000551.3(VHL):c.223_225delATC (p.Ile75del)	7428	VHL	Pathogenic	794729660	RCV000002298;	N	MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004	3	10183754	10183756	NM_000551.3:c.223_225delATC	NP_000542.1:p.Ile75del	NC_000003.11:g.10183754_10183756delATC	OMIM Allelic Variant:608537.0001	C0019562 193300 Von Hippel-Lindau syndrome
NM_000551.3(VHL):c.227_229delTCT (p.Phe76del)	7428	VHL	Pathogenic	5030648	RCV000208790;	N	MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004	3	10183758	10183760	NM_000551.3:c.227_229delTCT	NP_000542.1:p.Phe76del	NC_000003.11:g.10183758_10183760delTCT	-	C0019562 193300 Von Hippel-Lindau syndrome
NM_000551.3(VHL):c.232A>T (p.Asn78Tyr)	7428	VHL	Likely pathogenic	869025621	RCV000208818;	N	MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004	3	10183763	10183763	NM_000551.3:c.232A>T	NP_000542.1:p.Asn78Tyr	NC_000003.11:g.10183763A>T	-	C0019562 193300 Von Hippel-Lindau syndrome
NM_000551.3(VHL):c.233A>G (p.Asn78Ser)	7428	VHL	Pathogenic	5030804	RCV000079207;	N	MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004	3	10183764	10183764	NM_000551.3:c.233A>G	NP_000542.1:p.Asn78Ser	NC_000003.11:g.10183764A>G	HGMD:CM951272	C0019562 193300 Von Hippel-Lindau syndrome
NM_000551.3(VHL):c.233A>C (p.Asn78Thr)	7428	VHL	Likely pathogenic	5030804	RCV000208838;	N	MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004	3	10183764	10183764	NM_000551.3:c.233A>C	NP_000542.1:p.Asn78Thr		-	C0019562 193300 Von Hippel-Lindau syndrome
NM_000551.3(VHL):c.233A>T (p.Asn78Ile)	7428	VHL	Pathogenic	5030804	RCV000208821;	N	MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004	3	10183764	10183764	NM_000551.3:c.233A>T	NP_000542.1:p.Asn78Ile		-	C0019562 193300 Von Hippel-Lindau syndrome
NM_000551.3(VHL):c.241C>T (p.Pro81Ser)	7428	VHL	Likely benign;Pathogenic;Uncertain significance	104893829	RCV000002321; RCV000213077; RCV000115744;	N	MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004; MedGen:C0027672,SNOMED CT:699346009; MedGen:CN169374	3	10183772	10183772	NM_000551.3:c.241C>T	NP_000542.1:p.Pro81Ser	NC_000003.11:g.10183772C>T	OMIM Allelic Variant:608537.0020	C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified; C0019562 193300 Von Hippel-Lindau syndrome
NM_000551.3(VHL):c.242C>T (p.Pro81Leu)	7428	VHL	Likely pathogenic	193922608	RCV000030582; RCV000129974;	N	MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004; MedGen:C0027672,SNOMED CT:699346009	3	10183773	10183773	NM_000551.3:c.242C>T	NP_000542.1:p.Pro81Leu	NC_000003.11:g.10183773C>T	-	C0027672 Hereditary cancer-predisposing syndrome; C0019562 193300 Von Hippel-Lindau syndrome
NM_000551.3(VHL):c.245G>C (p.Arg82Pro)	7428	VHL	Pathogenic	794726890	RCV000173161;	N	MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004	3	10183776	10183776	NM_000551.3:c.245G>C	NP_000542.1:p.Arg82Pro	NC_000003.11:g.10183776G>C	-	C0019562 193300 Von Hippel-Lindau syndrome
NM_000551.3(VHL):c.246C>T (p.Arg82=)	7428	VHL	Benign;Likely benign	587780993	RCV000206706; RCV000213078; RCV000126301;	N	MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004; MedGen:C0027672,SNOMED CT:699346009; MedGen:CN169374	3	10183777	10183777	NM_000551.3:c.246C>T	NP_000542.1:p.Arg82=	NC_000003.11:g.10183777C>T	-	C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified; C0019562 193300 Von Hippel-Lindau syndrome
NM_000551.3(VHL):c.250G>T (p.Val84Leu)	7428	VHL	Pathogenic	5030827	RCV000002324;	N	MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004	3	10183781	10183781	NM_000551.3:c.250G>T	NP_000542.1:p.Val84Leu	NC_000003.11:g.10183781G>T	OMIM Allelic Variant:608537.0025	C0019562 193300 Von Hippel-Lindau syndrome
NM_000551.3(VHL):c.256C>G (p.Pro86Ala)	7428	VHL	Likely pathogenic;Pathogenic	398123481	RCV000079208;	N	MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004	3	10183787	10183787	NM_000551.3:c.256C>G	NP_000542.1:p.Pro86Ala	NC_000003.11:g.10183787C>G,NC_000003.11:g.10183787C>T	HGMD:CM951276	C0019562 193300 Von Hippel-Lindau syndrome
NM_000551.3(VHL):c.256C>T (p.Pro86Ser)	7428	VHL	Likely pathogenic;Pathogenic	398123481	RCV000155449;	N	MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004	3	10183787	10183787	NM_000551.3:c.256C>T	NP_000542.1:p.Pro86Ser	NC_000003.11:g.10183787C>G,NC_000003.11:g.10183787C>T	-	C0019562 193300 Von Hippel-Lindau syndrome
NM_000551.3(VHL):c.257C>T (p.Pro86Leu)	7428	VHL	Pathogenic	730882034	RCV000208836; RCV000161085;	N	MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004; MedGen:C0027672,SNOMED CT:699346009	3	10183788	10183788	NM_000551.3:c.257C>T	NP_000542.1:p.Pro86Leu	NC_000003.11:g.10183788C>T	-	C0027672 Hereditary cancer-predisposing syndrome; C0019562 193300 Von Hippel-Lindau syndrome
NM_000551.3(VHL):c.257C>G (p.Pro86Arg)	7428	VHL	Likely pathogenic	730882034	RCV000208868;	N	MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004	3	10183788	10183788	NM_000551.3:c.257C>G	NP_000542.1:p.Pro86Arg		-	C0019562 193300 Von Hippel-Lindau syndrome
NM_000551.3(VHL):c.258delC (p.Val87Tyrfs)	7428	VHL	Pathogenic	864622545	RCV000204033;	N	MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004	3	10183789	10183789	NM_000551.3:c.258delC	NP_000542.1:p.Val87Tyrfs	NC_000003.11:g.10183789delC	-	C0019562 193300 Von Hippel-Lindau syndrome
NM_000551.3(VHL):c.263G>C (p.Trp88Ser)	7428	VHL	Pathogenic	119103277	RCV000002306; RCV000002305;	N	MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004; MedGen:C1332900	3	10183794	10183794	NM_000551.3:c.263G>C	NP_000542.1:p.Trp88Ser	NC_000003.11:g.10183794G>A,NC_000003.11:g.10183794G>C	OMIM Allelic Variant:608537.0007	C1332900 Hemangioblastoma, sporadic cerebellar; C0019562 193300 Von Hippel-Lindau syndrome
NM_000551.3(VHL):c.263G>A (p.Trp88Ter)	7428	VHL	Pathogenic	119103277	RCV000208798; RCV000161086;	N	MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004; MedGen:CN221809	3	10183794	10183794	NM_000551.3:c.263G>A	NP_000542.1:p.Trp88Ter	NC_000003.11:g.10183794G>A,NC_000003.11:g.10183794G>C	-	CN221809 not provided; C0019562 193300 Von Hippel-Lindau syndrome
NM_000551.3(VHL):c.264G>T (p.Trp88Cys)	7428	VHL	Likely pathogenic	869025622	RCV000208827;	N	MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004	3	10183795	10183795	NM_000551.3:c.264G>T	NP_000542.1:p.Trp88Cys	NC_000003.11:g.10183795G>T	-	C0019562 193300 Von Hippel-Lindau syndrome
NM_000551.3(VHL):c.266T>C (p.Leu89Pro)	7428	VHL	Likely pathogenic;Pathogenic	5030807	RCV000208869; RCV000222299; RCV000161087;	N	MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004; MedGen:C0027672,SNOMED CT:699346009; MedGen:C3280492,OMIM:614327,ORPHA:289539	3	10183797	10183797	NM_000551.3:c.266T>C	NP_000542.1:p.Leu89Pro	NC_000003.11:g.10183797T>C	-	C0027672 Hereditary cancer-predisposing syndrome; C3280492 614327 Tumor predisposition syndrome; C0019562 193300 Von Hippel-Lindau syndrome
NM_000551.3(VHL):c.269A>T (p.Asn90Ile)	7428	VHL	Likely pathogenic	143985153	RCV000208809;	N	MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004	3	10183800	10183800	NM_000551.3:c.269A>T	NP_000542.1:p.Asn90Ile		-	C0019562 193300 Von Hippel-Lindau syndrome
NM_000551.3(VHL):c.269delA (p.Asn90Thrfs)	7428	VHL	Pathogenic	869025623	RCV000208842;	N	MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004	3	10183800	10183800	NM_000551.3:c.269delA	NP_000542.1:p.Asn90Thrfs	NC_000003.11:g.10183800delA	-	C0019562 193300 Von Hippel-Lindau syndrome
NM_000551.3(VHL):c.274G>T (p.Asp92Tyr)	7428	VHL	Uncertain significance	587780731	RCV000123105;	N	MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004	3	10183805	10183805	NM_000551.3:c.274G>T	NP_000542.1:p.Asp92Tyr	NC_000003.11:g.10183805G>T	-	C0019562 193300 Von Hippel-Lindau syndrome
NM_000551.3(VHL):c.277G>A (p.Gly93Ser)	7428	VHL	Pathogenic	5030808	RCV000208813; RCV000002325;	N	MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004; MedGen:C0031511,OMIM:171300	3	10183808	10183808	NM_000551.3:c.277G>A	NP_000542.1:p.Gly93Ser	NC_000003.11:g.10183808G>A	OMIM Allelic Variant:608537.0026	C0031511 171300 Pheochromocytoma; C0019562 193300 Von Hippel-Lindau syndrome
NM_000551.3(VHL):c.277G>C (p.Gly93Arg)	7428	VHL	Likely pathogenic	5030808	RCV000208861;	N	MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004	3	10183808	10183808	NM_000551.3:c.277G>C	NP_000542.1:p.Gly93Arg		-	C0019562 193300 Von Hippel-Lindau syndrome
NM_000551.3(VHL):c.277G>T (p.Gly93Cys)	7428	VHL	Pathogenic	5030808	RCV000208845;	N	MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004	3	10183808	10183808	NM_000551.3:c.277G>T	NP_000542.1:p.Gly93Cys		-	C0019562 193300 Von Hippel-Lindau syndrome
NM_000551.3(VHL):c.280G>A (p.Glu94Lys)	7428	VHL	Uncertain significance	5030829	RCV000123106; RCV000166872;	N	MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004; MedGen:C0027672,SNOMED CT:699346009	3	10183811	10183811	NM_000551.3:c.280G>A	NP_000542.1:p.Glu94Lys	NC_000003.11:g.10183811G>A	-	C0027672 Hereditary cancer-predisposing syndrome; C0019562 193300 Von Hippel-Lindau syndrome
NM_000551.3(VHL):c.289C>T (p.Pro97Ser)	7428	VHL	Uncertain significance	863224688	RCV000200000;	N	MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004	3	10183820	10183820	NM_000551.3:c.289C>T	NP_000542.1:p.Pro97Ser	NC_000003.11:g.10183820C>T	-	C0019562 193300 Von Hippel-Lindau syndrome
NM_000551.3(VHL):c.292T>C (p.Tyr98His)	7428	VHL	Pathogenic	5030809	RCV000002309; RCV000161077;	N	MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004; MedGen:C0027672,SNOMED CT:699346009	3	10183823	10183823	NM_000551.3:c.292T>C	NP_000542.1:p.Tyr98His	NC_000003.11:g.10183823T>C	HGMD:CM941370,OMIM Allelic Variant:608537.0009	C0027672 Hereditary cancer-predisposing syndrome; C0019562 193300 Von Hippel-Lindau syndrome
NM_000551.3(VHL):c.293A>C (p.Tyr98Ser)	7428	VHL	Likely pathogenic;Uncertain significance	864321643	RCV000208847; RCV000203508;	N	MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004; MedGen:C0031511,OMIM:171300	3	10183824	10183824	NM_000551.3:c.293A>C	NP_000542.1:p.Tyr98Ser		-	C0031511 171300 Pheochromocytoma; C0019562 193300 Von Hippel-Lindau syndrome
NM_000551.3(VHL):c.293A>G (p.Tyr98Cys)	7428	VHL	Pathogenic	864321643	RCV000208825;	N	MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004	3	10183824	10183824	NM_000551.3:c.293A>G	NP_000542.1:p.Tyr98Cys		-	C0019562 193300 Von Hippel-Lindau syndrome
NM_000551.3(VHL):c.293dupA (p.Tyr98Terfs)	7428	VHL	Pathogenic	869025624	RCV000208788;	N	MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004	3	10183824	10183824	NM_000551.3:c.293dupA	NP_000542.1:p.Tyr98Terfs	NC_000003.11:g.10183824dupA	-	C0019562 193300 Von Hippel-Lindau syndrome
NM_000551.3(VHL):c.296dupC (p.Thr100Asnfs)	7428	VHL	Pathogenic	869025625	RCV000208817;	N	MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004	3	10183827	10183827	NM_000551.3:c.296dupC	NP_000542.1:p.Thr100Asnfs	NC_000003.11:g.10183827dupC	-	C0019562 193300 Von Hippel-Lindau syndrome
NM_000551.3(VHL):c.300dupG (p.Leu101Alafs)	7428	VHL	Pathogenic	869025626	RCV000208859;	N	MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004	3	10183831	10183831	NM_000551.3:c.300dupG	NP_000542.1:p.Leu101Alafs	NC_000003.11:g.10183831dupG	-	C0019562 193300 Von Hippel-Lindau syndrome
NM_000551.3(VHL):c.307C>G (p.Pro103Ala)	7428	VHL	Uncertain significance	864622267	RCV000204487;	N	MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004	3	10183838	10183838	NM_000551.3:c.307C>G	NP_000542.1:p.Pro103Ala	NC_000003.11:g.10183838C>G	-	C0019562 193300 Von Hippel-Lindau syndrome
NM_000551.3(VHL):c.309delT (p.Gly104Alafs)	7428	VHL	Pathogenic	869025627	RCV000208801;	N	MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004	3	10183840	10183840	NM_000551.3:c.309delT	NP_000542.1:p.Gly104Alafs	NC_000003.11:g.10183840delT	-	C0019562 193300 Von Hippel-Lindau syndrome
NM_000551.3(VHL):c.309dupT (p.Gly104Trpfs)	7428	VHL	Pathogenic	869025628	RCV000208819;	N	MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004	3	10183840	10183840	NM_000551.3:c.309dupT	NP_000542.1:p.Gly104Trpfs	NC_000003.11:g.10183840dupT	-	C0019562 193300 Von Hippel-Lindau syndrome
NM_000551.3(VHL):c.311G>T (p.Gly104Val)	7428	VHL	Likely pathogenic	869025630	RCV000208803;	N	MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004	3	10183842	10183842	NM_000551.3:c.311G>T	NP_000542.1:p.Gly104Val	NC_000003.11:g.10183842G>T	-	C0019562 193300 Von Hippel-Lindau syndrome
NM_000551.3(VHL):c.311_340+20del	7428	VHL	Likely pathogenic	869025629	RCV000208853;	N	MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004	3	10183842	10183891	NM_000551.3:c.311_340+20del		NC_000003.11:g.10183842_10183891del50	-	C0019562 193300 Von Hippel-Lindau syndrome
NM_000551.3(VHL):c.319C>G (p.Arg107Gly)	7428	VHL	Pathogenic	397516440	RCV000036542;	N	MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004	3	10183850	10183850	NM_000551.3:c.319C>G	NP_000542.1:p.Arg107Gly	NC_000003.11:g.10183850C>G	-	C0019562 193300 Von Hippel-Lindau syndrome
NM_000551.3(VHL):c.320G>C (p.Arg107Pro)	7428	VHL	Likely pathogenic;Pathogenic	193922609	RCV000030583;	N	MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004	3	10183851	10183851	NM_000551.3:c.320G>C	NP_000542.1:p.Arg107Pro	NC_000003.11:g.10183851G>C	-	C0019562 193300 Von Hippel-Lindau syndrome
NM_000551.3(VHL):c.320G>A (p.Arg107His)	7428	VHL	Likely pathogenic	193922609	RCV000208864;	N	MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004	3	10183851	10183851	NM_000551.3:c.320G>A	NP_000542.1:p.Arg107His		-	C0019562 193300 Von Hippel-Lindau syndrome
NM_000551.3(VHL):c.321C>T (p.Arg107=)	7428	VHL	Uncertain significance	864622334	RCV000204667;	N	MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004	3	10183852	10183852	NM_000551.3:c.321C>T	NP_000542.1:p.Arg107=	NC_000003.11:g.10183852C>T	-	C0019562 193300 Von Hippel-Lindau syndrome
NM_000551.3(VHL):c.326T>A (p.Ile109Asn)	7428	VHL	Likely pathogenic	398123482	RCV000079209;	N	MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004	3	10183857	10183857	NM_000551.3:c.326T>A	NP_000542.1:p.Ile109Asn	NC_000003.11:g.10183857T>A	-	C0019562 193300 Von Hippel-Lindau syndrome
NM_000551.3(VHL):c.327C>T (p.Ile109=)	7428	VHL	Likely benign	863224371	RCV000196384;	N	MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004	3	10183858	10183858	NM_000551.3:c.327C>T	NP_000542.1:p.Ile109=	NC_000003.11:g.10183858C>T	-	C0019562 193300 Von Hippel-Lindau syndrome
NM_000551.3(VHL):c.332G>A (p.Ser111Asn)	7428	VHL	Pathogenic	869025631	RCV000208834;	N	MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004	3	10183863	10183863	NM_000551.3:c.332G>A	NP_000542.1:p.Ser111Asn		-	C0019562 193300 Von Hippel-Lindau syndrome
NM_000551.3(VHL):c.332G>T (p.Ser111Ile)	7428	VHL	Uncertain significance	869025631	RCV000208794;	N	MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004	3	10183863	10183863	NM_000551.3:c.332G>T	NP_000542.1:p.Ser111Ile		-	C0019562 193300 Von Hippel-Lindau syndrome
NM_000551.3(VHL):c.333C>G (p.Ser111Arg)	7428	VHL	Likely pathogenic	765978945	RCV000208866;	N	MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004	3	10183864	10183864	NM_000551.3:c.333C>G	NP_000542.1:p.Ser111Arg	NC_000003.11:g.10183864C>G	-	C0019562 193300 Von Hippel-Lindau syndrome
NM_000551.3(VHL):c.334T>C (p.Tyr112His)	7428	VHL	Pathogenic	104893824	RCV000002308;	N	MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004	3	10183865	10183865	NM_000551.3:c.334T>C	NP_000542.1:p.Tyr112His	NC_000003.11:g.10183865T>A,NC_000003.11:g.10183865T>C	OMIM Allelic Variant:608537.0012	C0019562 193300 Von Hippel-Lindau syndrome
NM_000551.3(VHL):c.334T>A (p.Tyr112Asn)	7428	VHL	Pathogenic	104893824	RCV000002316;	N	MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004	3	10183865	10183865	NM_000551.3:c.334T>A	NP_000542.1:p.Tyr112Asn	NC_000003.11:g.10183865T>A,NC_000003.11:g.10183865T>C	OMIM Allelic Variant:608537.0017	C0019562 193300 Von Hippel-Lindau syndrome
NM_000551.3(VHL):c.335A>G (p.Tyr112Cys)	7428	VHL	Uncertain significance	869025633	RCV000208852; RCV000219736;	N	MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004; MedGen:C3280492,OMIM:614327,ORPHA:289539	3	10183866	10183866	NM_000551.3:c.335A>G	NP_000542.1:p.Tyr112Cys	NC_000003.11:g.10183866A>G	-	C3280492 614327 Tumor predisposition syndrome; C0019562 193300 Von Hippel-Lindau syndrome
NM_000551.3(VHL):c.335_340+5del11	7428	VHL	Pathogenic	869025632	RCV000208806;	N	MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004	3	10183866	10183876	NM_000551.3:c.335_340+5del11		NC_000003.11:g.10183866_10183876delACCGAGGTACG	-	C0019562 193300 Von Hippel-Lindau syndrome
NM_000551.3(VHL):c.337C>T (p.Arg113Ter)	7428	VHL	Pathogenic	5030810	RCV000204250;	N	MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004	3	10183868	10183868	NM_000551.3:c.337C>T	NP_000542.1:p.Arg113Ter	NC_000003.11:g.10183868C>T	-	C0019562 193300 Von Hippel-Lindau syndrome
NM_000551.3(VHL):c.340G>C (p.Gly114Arg)	7428	VHL	Pathogenic	869025636	RCV000208843;	N	MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004	3	10183871	10183871	NM_000551.3:c.340G>C	NP_000542.1:p.Gly114Arg	NC_000003.11:g.10183871G>C	-	C0019562 193300 Von Hippel-Lindau syndrome
NM_000551.3(VHL):c.340+1G>A	7428	VHL	Pathogenic	730882032	RCV000208808;	N	MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004	3	10183872	10183872	NM_000551.3:c.340+1G>A			-	C0019562 193300 Von Hippel-Lindau syndrome
NM_000551.3(VHL):c.340+2_340+6del	7428	VHL	Pathogenic	869025634	RCV000208840;	N	MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004	3	10183873	10183877	NM_000551.3:c.340+2_340+6del		NC_000003.11:g.10183873_10183877delTACGG	-	C0019562 193300 Von Hippel-Lindau syndrome
NM_000551.3(VHL):c.340+5G>C	7428	VHL	Benign	61758376	RCV000030584; RCV000155670; RCV000115745;	N	MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004; MedGen:C0027672,SNOMED CT:699346009; MedGen:CN169374	3	10183876	10183876	NM_000551.3:c.340+5G>C		NC_000003.11:g.10183876G>C	-	C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified; C0019562 193300 Von Hippel-Lindau syndrome
NM_000551.3(VHL):c.340+7G>C	7428	VHL	Likely benign	869025635	RCV000208811;	N	MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004	3	10183878	10183878	NM_000551.3:c.340+7G>C		NC_000003.11:g.10183878G>C	-	C0019562 193300 Von Hippel-Lindau syndrome
NM_000551.3(VHL):c.341-21_341-17delAACCT	7428	VHL	Likely benign	869025639	RCV000208857;	N	MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004	3	10188177	10188181	NM_000551.3:c.341-21_341-17delAACCT		NC_000003.11:g.10188177_10188181delAACCT	-	C0019562 193300 Von Hippel-Lindau syndrome
NM_000551.3(VHL):c.341-2A>G	7428	VHL	Pathogenic	869025637	RCV000208784;	N	MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004	3	10188196	10188196	NM_000551.3:c.341-2A>G		NC_000003.11:g.10188196A>G	-	C0019562 193300 Von Hippel-Lindau syndrome
NM_000551.3(VHL):c.341delG (p.Gly114Valfs)	7428	VHL	Pathogenic	869025638	RCV000208824;	N	MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004	3	10188198	10188198	NM_000551.3:c.341delG	NP_000542.1:p.Gly114Valfs	NC_000003.11:g.10188198delG	-	C0019562 193300 Von Hippel-Lindau syndrome
NM_000551.3(VHL):c.345C>T (p.His115=)	7428	VHL	Likely benign	864622646	RCV000204312;	N	MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004	3	10188202	10188202	NM_000551.3:c.345C>T	NP_000542.1:p.His115=	NC_000003.11:g.10188202C>T	-	C0019562 193300 Von Hippel-Lindau syndrome
NM_000551.3(VHL):c.351G>T (p.Trp117Cys)	7428	VHL	Pathogenic	727504215	RCV000154124;	N	MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004	3	10188208	10188208	NM_000551.3:c.351G>T	NP_000542.1:p.Trp117Cys	NC_000003.11:g.10188208G>T	HGMD:CM951286	C0019562 193300 Von Hippel-Lindau syndrome
NM_000551.3(VHL):c.351delG (p.Trp117Cysfs)	7428	VHL	Pathogenic	869025640	RCV000208786;	N	MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004	3	10188208	10188208	NM_000551.3:c.351delG	NP_000542.1:p.Trp117Cysfs	NC_000003.11:g.10188208delG	-	C0019562 193300 Von Hippel-Lindau syndrome
NM_000551.3(VHL):c.352_353insA (p.Leu118Hisfs)	7428	VHL	Pathogenic	869025641	RCV000208858;	N	MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004	3	10188209	10188210	NM_000551.3:c.352_353insA	NP_000542.1:p.Leu118Hisfs	NC_000003.11:g.10188209_10188210insA	-	C0019562 193300 Von Hippel-Lindau syndrome
NM_000551.3(VHL):c.358A>G (p.Arg120Gly)	7428	VHL	Likely pathogenic	869025642	RCV000208800;	N	MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004	3	10188215	10188215	NM_000551.3:c.358A>G	NP_000542.1:p.Arg120Gly	NC_000003.11:g.10188215A>G	-	C0019562 193300 Von Hippel-Lindau syndrome
NM_000551.3(VHL):c.362A>G (p.Asp121Gly)	7428	VHL	Pathogenic	5030832	RCV000208830;	N	MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004	3	10188219	10188219	NM_000551.3:c.362A>G	NP_000542.1:p.Asp121Gly	NC_000003.11:g.10188219A>G	-	C0019562 193300 Von Hippel-Lindau syndrome
NM_000551.3(VHL):c.371C>T (p.Thr124Ile)	7428	VHL	Likely pathogenic	193922610	RCV000030585;	N	MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004	3	10188228	10188228	NM_000551.3:c.371C>T	NP_000542.1:p.Thr124Ile	NC_000003.11:g.10188228C>T	-	C0019562 193300 Von Hippel-Lindau syndrome
NM_000551.3(VHL):c.374A>C (p.His125Pro)	7428	VHL	Pathogenic	869025643	RCV000208860;	N	MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004	3	10188231	10188231	NM_000551.3:c.374A>C	NP_000542.1:p.His125Pro	NC_000003.11:g.10188231A>C	-	C0019562 193300 Von Hippel-Lindau syndrome
NM_000551.3(VHL):c.374_375delAC (p.His125Argfs)	7428	VHL	Pathogenic	869025644	RCV000208802;	N	MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004	3	10188231	10188232	NM_000551.3:c.374_375delAC	NP_000542.1:p.His125Argfs	NC_000003.11:g.10188231_10188232delAC	-	C0019562 193300 Von Hippel-Lindau syndrome
NM_000551.3(VHL):c.375C>T (p.His125=)	7428	VHL	Likely benign	863224372	RCV000198597;	N	MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004	3	10188232	10188232	NM_000551.3:c.375C>T	NP_000542.1:p.His125=	NC_000003.11:g.10188232C>T	-	C0019562 193300 Von Hippel-Lindau syndrome
NM_000551.3(VHL):c.381_382delGCinsTT (p.Leu128Phe)	7428	VHL	Likely pathogenic	869025645	RCV000208832;	N	MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004	3	10188238	10188239	NM_000551.3:c.381_382delGCinsTT	NP_000542.1:p.Leu128Phe	NC_000003.11:g.10188238_10188239delGCinsTT	-	C0019562 193300 Von Hippel-Lindau syndrome
NM_000551.3(VHL):c.387G>T (p.Leu129=)	7428	VHL	Likely benign	778846471	RCV000205746;	N	MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004	3	10188244	10188244	NM_000551.3:c.387G>T	NP_000542.1:p.Leu129=	NC_000003.11:g.10188244G>T	-	C0019562 193300 Von Hippel-Lindau syndrome
NM_000551.3(VHL):c.388G>C (p.Val130Leu)	7428	VHL	Pathogenic	104893830	RCV000030586; RCV000002317;	N	Gene:8056,MedGen:C1837915,OMIM:263400,ORPHA:238557; MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004	3	10188245	10188245	NM_000551.3:c.388G>C	NP_000542.1:p.Val130Leu	NC_000003.11:g.10188245G>C	OMIM Allelic Variant:608537.0021	C1837915 263400 Erythrocytosis, familial, 2; C0019562 193300 Von Hippel-Lindau syndrome
NM_000551.3(VHL):c.402delA (p.Glu134Aspfs)	7428	VHL	Pathogenic	869025646	RCV000208816;	N	MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004	3	10188259	10188259	NM_000551.3:c.402delA	NP_000542.1:p.Glu134Aspfs	NC_000003.11:g.10188259delA	-	C0019562 193300 Von Hippel-Lindau syndrome
NM_000551.3(VHL):c.408delT (p.Phe136Leufs)	7428	VHL	Pathogenic	397516442	RCV000036544;	N	MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004	3	10188265	10188265	NM_000551.3:c.408delT	NP_000542.1:p.Phe136Leufs	NC_000003.11:g.10188265delT	-	C0019562 193300 Von Hippel-Lindau syndrome
NM_000551.3(VHL):c.414A>G (p.Pro138=)	7428	VHL	Likely benign;Likely pathogenic	869025648	RCV000208865; RCV000216698;	N	MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004; MedGen:C3280492,OMIM:614327,ORPHA:289539	3	10188271	10188271	NM_000551.3:c.414A>G	NP_000542.1:p.Pro138=	NC_000003.11:g.10188271A>G	-	C3280492 614327 Tumor predisposition syndrome; C0019562 193300 Von Hippel-Lindau syndrome
NM_000551.3(VHL):c.416C>G (p.Ser139Cys)	7428	VHL	Uncertain significance	587780732	RCV000123107; RCV000161079;	N	MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004; MedGen:CN169374	3	10188273	10188273	NM_000551.3:c.416C>G	NP_000542.1:p.Ser139Cys	NC_000003.11:g.10188273C>G,NC_000003.11:g.10188273C>T	-	CN169374 not specified; C0019562 193300 Von Hippel-Lindau syndrome
NM_000551.3(VHL):c.416C>T (p.Ser139Phe)	7428	VHL	Uncertain significance	587780732	RCV000196415;	N	MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004	3	10188273	10188273	NM_000551.3:c.416C>T	NP_000542.1:p.Ser139Phe	NC_000003.11:g.10188273C>G,NC_000003.11:g.10188273C>T	-	C0019562 193300 Von Hippel-Lindau syndrome
NM_000551.3(VHL):c.419_420delTC (p.Leu140Glnfs)	7428	VHL	Pathogenic	869025649	RCV000208805;	N	MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004	3	10188276	10188277	NM_000551.3:c.419_420delTC	NP_000542.1:p.Leu140Glnfs	NC_000003.11:g.10188276_10188277delTC	-	C0019562 193300 Von Hippel-Lindau syndrome
NM_000551.3(VHL):c.430G>T (p.Gly144Ter)	7428	VHL	Likely pathogenic	869025650	RCV000208850;	N	MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004	3	10188287	10188287	NM_000551.3:c.430G>T	NP_000542.1:p.Gly144Ter	NC_000003.11:g.10188287G>T	-	C0019562 193300 Von Hippel-Lindau syndrome
NM_000551.3(VHL):c.431delG (p.Gly144Aspfs)	7428	VHL	Pathogenic	869025651	RCV000208791;	N	MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004	3	10188288	10188288	NM_000551.3:c.431delG	NP_000542.1:p.Gly144Aspfs	NC_000003.11:g.10188288delG	-	C0019562 193300 Von Hippel-Lindau syndrome
NM_000551.3(VHL):c.434A>T (p.Gln145Leu)	7428	VHL	Uncertain significance	864622313	RCV000203944;	N	MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004	3	10188291	10188291	NM_000551.3:c.434A>T	NP_000542.1:p.Gln145Leu	NC_000003.11:g.10188291A>T	-	C0019562 193300 Von Hippel-Lindau syndrome
NM_000551.3(VHL):c.435G>C (p.Gln145His)	7428	VHL	Uncertain significance	771727849	RCV000197591;	N	MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004	3	10188292	10188292	NM_000551.3:c.435G>C	NP_000542.1:p.Gln145His	NC_000003.11:g.10188292G>C	-	C0019562 193300 Von Hippel-Lindau syndrome
NM_000551.3(VHL):c.435_436delGC (p.Gln145Hisfs)	7428	VHL	Pathogenic	869025652	RCV000208807;	N	MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004	3	10188292	10188293	NM_000551.3:c.435_436delGC	NP_000542.1:p.Gln145Hisfs	NC_000003.11:g.10188292_10188293delGC	-	C0019562 193300 Von Hippel-Lindau syndrome
NM_000551.3(VHL):c.444delT (p.Phe148Leufs)	7428	VHL	Pathogenic	869025654	RCV000208793;	N	MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004	3	10188301	10188301	NM_000551.3:c.444delT	NP_000542.1:p.Phe148Leufs	NC_000003.11:g.10188301delT	-	C0019562 193300 Von Hippel-Lindau syndrome
NM_000551.3(VHL):c.444dupT (p.Ala149Cysfs)	7428	VHL	Pathogenic	869025653	RCV000208839;	N	MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004	3	10188301	10188301	NM_000551.3:c.444dupT	NP_000542.1:p.Ala149Cysfs	NC_000003.11:g.10188301dupT	-	C0019562 193300 Von Hippel-Lindau syndrome
NM_000551.3(VHL):c.445G>T (p.Ala149Ser)	7428	VHL	Pathogenic	587780077	RCV000208783; RCV000115746;	N	MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004; MedGen:CN221809	3	10188302	10188302	NM_000551.3:c.445G>T	NP_000542.1:p.Ala149Ser	NC_000003.11:g.10188302G>T	-	CN221809 not provided; C0019562 193300 Von Hippel-Lindau syndrome
NM_000551.3(VHL):c.445G>A (p.Ala149Thr)	7428	VHL	Pathogenic	587780077	RCV000208822;	N	MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004	3	10188302	10188302	NM_000551.3:c.445G>A	NP_000542.1:p.Ala149Thr		-	C0019562 193300 Von Hippel-Lindau syndrome
NM_000551.3(VHL):c.445G>C (p.Ala149Pro)	7428	VHL	Uncertain significance	587780077	RCV000208855;	N	MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004	3	10188302	10188302	NM_000551.3:c.445G>C	NP_000542.1:p.Ala149Pro		-	C0019562 193300 Von Hippel-Lindau syndrome
NM_000551.3(VHL):c.449delA (p.Asn150Ilefs)	7428	VHL	Pathogenic	794727253	RCV000175633;	N	MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004	3	10188306	10188306	NM_000551.3:c.449delA	NP_000542.1:p.Asn150Ilefs	NC_000003.11:g.10188306delA	-	C0019562 193300 Von Hippel-Lindau syndrome
NM_000551.3(VHL):c.452T>G (p.Ile151Ser)	7428	VHL	Pathogenic	869025655	RCV000208823;	N	MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004	3	10188309	10188309	NM_000551.3:c.452T>G	NP_000542.1:p.Ile151Ser	NC_000003.11:g.10188309T>G	-	C0019562 193300 Von Hippel-Lindau syndrome
NM_000551.3(VHL):c.454_463+17del	7428	VHL	Pathogenic	869025656	RCV000208856;	N	MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004	3	10188311	10188337	NM_000551.3:c.454_463+17del		NC_000003.11:g.10188311_10188337del27	-	C0019562 193300 Von Hippel-Lindau syndrome
NM_000551.3(VHL):c.458T>A (p.Leu153Gln)	7428	VHL	Likely pathogenic	193922611	RCV000030587;	N	MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004	3	10188315	10188315	NM_000551.3:c.458T>A	NP_000542.1:p.Leu153Gln	NC_000003.11:g.10188315T>A	-	C0019562 193300 Von Hippel-Lindau syndrome
NM_000551.3(VHL):c.463G>A (p.Val155Met)	7428	VHL	Uncertain significance	869025659	RCV000208799;	N	MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004	3	10188320	10188320	NM_000551.3:c.463G>A	NP_000542.1:p.Val155Met	NC_000003.11:g.10188320G>A	-	C0019562 193300 Von Hippel-Lindau syndrome
NM_000551.3(VHL):c.463+1G>C	7428	VHL	Pathogenic	869025657	RCV000208796;	N	MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004	3	10188321	10188321	NM_000551.3:c.463+1G>C		NC_000003.11:g.10188321G>C	-	C0019562 193300 Von Hippel-Lindau syndrome
NM_000551.3(VHL):c.463+2T>G	7428	VHL	Likely pathogenic	397516443	RCV000036545;	N	MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004	3	10188322	10188322	NM_000551.3:c.463+2T>G		NC_000003.11:g.10188322T>G	-	C0019562 193300 Von Hippel-Lindau syndrome
NM_000551.3(VHL):c.463+8C>T	7428	VHL	Benign;Likely benign	5030834	RCV000123108; RCV000115747; RCV000210772;	N	MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004; MedGen:C0027672,SNOMED CT:699346009; MedGen:CN169374	3	10188328	10188328	NM_000551.3:c.463+8C>T		NC_000003.11:g.10188328C>T	-	C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified; C0019562 193300 Von Hippel-Lindau syndrome
NM_000551.3(VHL):c.463+37_463+39del	7428	VHL	Likely benign	869025658	RCV000208837;	N	MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004	3	10188357	10188359	NM_000551.3:c.463+37_463+39del		NC_000003.11:g.10188357_10188359delTGT	-	C0019562 193300 Von Hippel-Lindau syndrome
NM_000551.3(VHL):c.464-117delT	7428	VHL	Uncertain significance	193922612	RCV000030588;	N	MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004	3	10191354	10191354	NM_000551.3:c.464-117delT		NC_000003.11:g.10191354delT	-	C0019562 193300 Von Hippel-Lindau syndrome
NM_000551.3(VHL):c.464-2A>G	7428	VHL	Pathogenic	5030816	RCV000208810; RCV000216737;	N	MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004; MedGen:C3280492,OMIM:614327,ORPHA:289539	3	10191469	10191469	NM_000551.3:c.464-2A>G		NC_000003.11:g.10191469A>G	-	C3280492 614327 Tumor predisposition syndrome; C0019562 193300 Von Hippel-Lindau syndrome
NM_000551.3(VHL):c.464-1G>A	7428	VHL	Pathogenic	5030817	RCV000036546; RCV000161080;	N	MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004; MedGen:C0027672,SNOMED CT:699346009	3	10191470	10191470	NM_000551.3:c.464-1G>A		NC_000003.11:g.10191470G>A	-	C0027672 Hereditary cancer-predisposing syndrome; C0019562 193300 Von Hippel-Lindau syndrome
NM_000551.3(VHL):c.464-1G>C	7428	VHL	Pathogenic	5030817	RCV000208828;	N	MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004	3	10191470	10191470	NM_000551.3:c.464-1G>C			-	C0019562 193300 Von Hippel-Lindau syndrome
NM_000551.3(VHL):c.464-1G>T	7428	VHL	Pathogenic	5030817	RCV000208870;	N	MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004	3	10191470	10191470	NM_000551.3:c.464-1G>T			-	C0019562 193300 Von Hippel-Lindau syndrome
NC_000003.12:g.(?_10149787)_(10149965_?)del	7428	VHL	Pathogenic	-1	RCV000154435;	N	MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004	3	10191471	10191649	-	-		-	C0019562 193300 Von Hippel-Lindau syndrome
NM_000551.3(VHL):c.467A>G (p.Tyr156Cys)	7428	VHL	Pathogenic	397516441	RCV000036543;	N	MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004	3	10191474	10191474	NM_000551.3:c.467A>G	NP_000542.1:p.Tyr156Cys	NC_000003.11:g.10191474A>G	-	C0019562 193300 Von Hippel-Lindau syndrome
NM_000551.3(VHL):c.470C>T (p.Thr157Ile)	7428	VHL	Pathogenic	869025660	RCV000208862;	N	MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004	3	10191477	10191477	NM_000551.3:c.470C>T	NP_000542.1:p.Thr157Ile	NC_000003.11:g.10191477C>T	-	C0019562 193300 Von Hippel-Lindau syndrome
NM_000551.3(VHL):c.471dupT (p.Leu158Serfs)	7428	VHL	Likely pathogenic	869025661	RCV000208814;	N	MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004	3	10191478	10191478	NM_000551.3:c.471dupT	NP_000542.1:p.Leu158Serfs	NC_000003.11:g.10191478dupT	-	C0019562 193300 Von Hippel-Lindau syndrome
NM_000551.3(VHL):c.473T>C (p.Leu158Pro)	7428	VHL	Pathogenic	121913346	RCV000208846; RCV000161088;	N	MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004; MedGen:C0027672,SNOMED CT:699346009	3	10191480	10191480	NM_000551.3:c.473T>C	NP_000542.1:p.Leu158Pro	NC_000003.11:g.10191480T>C	-	C0027672 Hereditary cancer-predisposing syndrome; C0019562 193300 Von Hippel-Lindau syndrome
NM_000551.3(VHL):c.477delA (p.Glu160Serfs)	7428	VHL	Pathogenic	730882020	RCV000208863; RCV000161061;	N	MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004; MedGen:C0027672,SNOMED CT:699346009	3	10191484	10191484	NM_000551.3:c.477delA	NP_000542.1:p.Glu160Serfs	NC_000003.11:g.10191484delA	-	C0027672 Hereditary cancer-predisposing syndrome; C0019562 193300 Von Hippel-Lindau syndrome
NM_000551.3(VHL):c.481C>T (p.Arg161Ter)	7428	VHL	Pathogenic	5030818	RCV000002301; RCV000161091;	N	MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004; MedGen:C0027672,SNOMED CT:699346009	3	10191488	10191488	NM_000551.3:c.481C>T	NP_000542.1:p.Arg161Ter	NC_000003.11:g.10191488C>T	OMIM Allelic Variant:608537.0006	C0027672 Hereditary cancer-predisposing syndrome; C0019562 193300 Von Hippel-Lindau syndrome
NM_000551.3(VHL):c.482G>A (p.Arg161Gln)	7428	VHL	Pathogenic	730882035	RCV000208848; RCV000161092;	N	MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004; MedGen:C0027672,SNOMED CT:699346009	3	10191489	10191489	NM_000551.3:c.482G>A	NP_000542.1:p.Arg161Gln	NC_000003.11:g.10191489G>A	-	C0027672 Hereditary cancer-predisposing syndrome; C0019562 193300 Von Hippel-Lindau syndrome
NM_000551.3(VHL):c.485G>T (p.Cys162Phe)	7428	VHL	Pathogenic	397516444	RCV000036548;	N	MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004	3	10191492	10191492	NM_000551.3:c.485G>T	NP_000542.1:p.Cys162Phe	NC_000003.11:g.10191492G>T	-	C0019562 193300 Von Hippel-Lindau syndrome
NM_000551.3(VHL):c.485G>A (p.Cys162Tyr)	7428	VHL	Pathogenic	397516444	RCV000208789;	N	MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004	3	10191492	10191492	NM_000551.3:c.485G>A	NP_000542.1:p.Cys162Tyr		-	C0019562 193300 Von Hippel-Lindau syndrome
NM_000551.3(VHL):c.486C>A (p.Cys162Ter)	7428	VHL	Likely pathogenic	869025662	RCV000208851;	N	MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004	3	10191493	10191493	NM_000551.3:c.486C>A	NP_000542.1:p.Cys162Ter		-	C0019562 193300 Von Hippel-Lindau syndrome
NM_000551.3(VHL):c.486C>G (p.Cys162Trp)	7428	VHL	Pathogenic	869025662	RCV000208792;	N	MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004	3	10191493	10191493	NM_000551.3:c.486C>G	NP_000542.1:p.Cys162Trp		-	C0019562 193300 Von Hippel-Lindau syndrome
NM_000551.3(VHL):c.490C>T (p.Gln164Ter)	7428	VHL	Likely pathogenic	5030819	RCV000208820;	N	MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004	3	10191497	10191497	NM_000551.3:c.490C>T	NP_000542.1:p.Gln164Ter	NC_000003.11:g.10191497C>T	-	C0019562 193300 Von Hippel-Lindau syndrome
NM_000551.3(VHL):c.491A>G (p.Gln164Arg)	7428	VHL	Pathogenic	267607170	RCV000002326;	N	MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004	3	10191498	10191498	NM_000551.3:c.491A>G	NP_000542.1:p.Gln164Arg	NC_000003.11:g.10191498A>G	OMIM Allelic Variant:608537.0027	C0019562 193300 Von Hippel-Lindau syndrome
NM_000551.3(VHL):c.496G>T (p.Val166Phe)	7428	VHL	Pathogenic	104893825	RCV000002310; RCV000220823;	N	MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004; MedGen:C3280492,OMIM:614327,ORPHA:289539	3	10191503	10191503	NM_000551.3:c.496G>T	NP_000542.1:p.Val166Phe	NC_000003.11:g.10191503G>T	OMIM Allelic Variant:608537.0013	C3280492 614327 Tumor predisposition syndrome; C0019562 193300 Von Hippel-Lindau syndrome
NM_000551.3(VHL):c.496_506delGTCCGGAGCCT (p.Val166Serfs)	7428	VHL	Likely pathogenic	869025663	RCV000208854;	N	MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004	3	10191503	10191513	NM_000551.3:c.496_506delGTCCGGAGCCT	NP_000542.1:p.Val166Serfs	NC_000003.11:g.10191503_10191513delGTCCGGAGCCT	-	C0019562 193300 Von Hippel-Lindau syndrome
NM_000551.3(VHL):c.497T>C (p.Val166Ala)	7428	VHL	Pathogenic	397516445	RCV000036549; RCV000161081;	N	MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004; MedGen:C0027672,SNOMED CT:699346009	3	10191504	10191504	NM_000551.3:c.497T>C	NP_000542.1:p.Val166Ala	NC_000003.11:g.10191504T>C	-	C0027672 Hereditary cancer-predisposing syndrome; C0019562 193300 Von Hippel-Lindau syndrome
NM_000551.3(VHL):c.499C>T (p.Arg167Trp)	7428	VHL	Pathogenic	5030820	RCV000002302; RCV000002303; RCV000213079; RCV000132159;	N	MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004; MedGen:C0027672,SNOMED CT:699346009; MedGen:C0031511,OMIM:171300; MedGen:CN221809	3	10191506	10191506	NM_000551.3:c.499C>T	NP_000542.1:p.Arg167Trp	NC_000003.11:g.10191506C>G,NC_000003.11:g.10191506C>T	OMIM Allelic Variant:608537.0003,OMIM Allelic Variant:608537.0010,OMIM Allelic Variant:608537.0011	C0027672 Hereditary cancer-predisposing syndrome; CN221809 not provided; C0031511 171300 Pheochromocytoma; C0019562 193300 Von Hippel-Lindau syndrome
NM_000551.3(VHL):c.499C>G (p.Arg167Gly)	7428	VHL	Pathogenic	5030820	RCV000002304;	N	MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004	3	10191506	10191506	NM_000551.3:c.499C>G	NP_000542.1:p.Arg167Gly	NC_000003.11:g.10191506C>G,NC_000003.11:g.10191506C>T	OMIM Allelic Variant:608537.0004	C0019562 193300 Von Hippel-Lindau syndrome
NM_000551.3(VHL):c.500G>A (p.Arg167Gln)	7428	VHL	Pathogenic	5030821	RCV000002300; RCV000213850;	N	MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004; MedGen:C3280492,OMIM:614327,ORPHA:289539	3	10191507	10191507	NM_000551.3:c.500G>A	NP_000542.1:p.Arg167Gln	NC_000003.11:g.10191507G>A	OMIM Allelic Variant:608537.0005	C3280492 614327 Tumor predisposition syndrome; C0019562 193300 Von Hippel-Lindau syndrome
NM_000551.3(VHL):c.501_502insTTGTCCGT (p.Ser168Leufs)	7428	VHL	Pathogenic	398123483	RCV000079210;	N	MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004	3	10191508	10191509	NM_000551.3:c.501_502insTTGTCCGT	NP_000542.1:p.Ser168Leufs	NC_000003.11:g.10191508_10191509insTTGTCCGT	HGMD:CI951987	C0019562 193300 Von Hippel-Lindau syndrome
NM_000551.3(VHL):c.524A>G (p.Tyr175Cys)	7428	VHL	Likely pathogenic	193922613	RCV000030589;	N	MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004	3	10191531	10191531	NM_000551.3:c.524A>G	NP_000542.1:p.Tyr175Cys	NC_000003.11:g.10191531A>G	-	C0019562 193300 Von Hippel-Lindau syndrome
NM_000551.3(VHL):c.538A>G (p.Ile180Val)	7428	VHL	Likely benign;Uncertain significance	377715747	RCV000148921;	N	MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004	3	10191545	10191545	NM_000551.3:c.538A>G	NP_000542.1:p.Ile180Val	NC_000003.11:g.10191545A>G	-	C0019562 193300 Von Hippel-Lindau syndrome
NM_000551.3(VHL):c.540_543delCGTC (p.Val181Glyfs)	7428	VHL	Uncertain significance	869025664	RCV000208795;	N	MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004	3	10191547	10191550	NM_000551.3:c.540_543delCGTC	NP_000542.1:p.Val181Glyfs	NC_000003.11:g.10191547_10191550delCGTC	-	C0019562 193300 Von Hippel-Lindau syndrome
NM_000551.3(VHL):c.544A>G (p.Arg182Gly)	7428	VHL	Uncertain significance	778205243	RCV000204757;	N	MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004	3	10191551	10191551	NM_000551.3:c.544A>G	NP_000542.1:p.Arg182Gly	NC_000003.11:g.10191551A>G	-	C0019562 193300 Von Hippel-Lindau syndrome
NM_000551.3(VHL):c.546delG (p.Arg182Serfs)	7428	VHL	Uncertain significance	869025665	RCV000208835;	N	MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004	3	10191553	10191553	NM_000551.3:c.546delG	NP_000542.1:p.Arg182Serfs	NC_000003.11:g.10191553delG	-	C0019562 193300 Von Hippel-Lindau syndrome
NM_000551.3(VHL):c.548C>A (p.Ser183Ter)	7428	VHL	Pathogenic	5030823	RCV000208867; RCV000002299;	N	MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004; MedGen:CN182935	3	10191555	10191555	NM_000551.3:c.548C>A	NP_000542.1:p.Ser183Ter	NC_000003.11:g.10191555C>A,NC_000003.11:g.10191555C>G	OMIM Allelic Variant:608537.0002	CN182935 Renal cell carcinoma; C0019562 193300 Von Hippel-Lindau syndrome
NM_000551.3(VHL):c.549G>A (p.Ser183=)	7428	VHL	Likely benign	193922614	RCV000030590;	N	MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004	3	10191556	10191556	NM_000551.3:c.549G>A	NP_000542.1:p.Ser183=	NC_000003.11:g.10191556G>A,NC_000003.11:g.10191556G>T	-	C0019562 193300 Von Hippel-Lindau syndrome
NM_000551.3(VHL):c.549G>T (p.Ser183=)	7428	VHL	Likely benign	193922614	RCV000203914;	N	MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004	3	10191556	10191556	NM_000551.3:c.549G>T	NP_000542.1:p.Ser183=		-	C0019562 193300 Von Hippel-Lindau syndrome
NM_000551.3(VHL):c.552C>T (p.Leu184=)	7428	VHL	Likely benign	779157605	RCV000200112;	N	MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004	3	10191559	10191559	NM_000551.3:c.552C>T	NP_000542.1:p.Leu184=	NC_000003.11:g.10191559C>T	-	C0019562 193300 Von Hippel-Lindau syndrome
NM_000551.3(VHL):c.554A>G (p.Tyr185Cys)	7428	VHL	Uncertain significance	561874453	RCV000208797;	N	MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004	3	10191561	10191561	NM_000551.3:c.554A>G	NP_000542.1:p.Tyr185Cys	NC_000003.11:g.10191561A>G	-	C0019562 193300 Von Hippel-Lindau syndrome
NM_000551.3(VHL):c.555C>T (p.Tyr185=)	7428	VHL	Likely benign	864622109	RCV000205143;	N	MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004	3	10191562	10191562	NM_000551.3:c.555C>T	NP_000542.1:p.Tyr185=		-	C0019562 193300 Von Hippel-Lindau syndrome
NM_000551.3(VHL):c.555C>G (p.Tyr185Ter)	7428	VHL	Pathogenic	864622109	RCV000208826; RCV000219064;	N	MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004; MedGen:C3280492,OMIM:614327,ORPHA:289539	3	10191562	10191562	NM_000551.3:c.555C>G	NP_000542.1:p.Tyr185Ter		-	C3280492 614327 Tumor predisposition syndrome; C0019562 193300 Von Hippel-Lindau syndrome
NM_000551.3(VHL):c.556G>A (p.Glu186Lys)	7428	VHL	Uncertain significance	367545984	RCV000148924;	N	MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004	3	10191563	10191563	NM_000551.3:c.556G>A	NP_000542.1:p.Glu186Lys	NC_000003.11:g.10191563G>A	-	C0019562 193300 Von Hippel-Lindau syndrome
NM_000551.3(VHL):c.562C>G (p.Leu188Val)	7428	VHL	Pathogenic	5030824	RCV000002311; RCV000002313; RCV000002312; RCV000210199;	N	Gene:8056,MedGen:C1837915,OMIM:263400,ORPHA:238557; MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004; MedGen:C0027672,SNOMED CT:699346009; MedGen:C0031511,OMIM:171300	3	10191569	10191569	NM_000551.3:c.562C>G	NP_000542.1:p.Leu188Val	NC_000003.11:g.10191569C>G	OMIM Allelic Variant:608537.0014	C1837915 263400 Erythrocytosis, familial, 2; C0027672 Hereditary cancer-predisposing syndrome; C0031511 171300 Pheochromocytoma; C0019562 193300 Von Hippel-Lindau syndrome
NM_000551.3(VHL):c.572A>C (p.His191Pro)	7428	VHL	Uncertain significance	370050374	RCV000200136; RCV000161093;	N	MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004; MedGen:CN169374	3	10191579	10191579	NM_000551.3:c.572A>C	NP_000542.1:p.His191Pro	NC_000003.11:g.10191579A>C	-	CN169374 not specified; C0019562 193300 Von Hippel-Lindau syndrome
NM_000551.3(VHL):c.586A>T (p.Lys196Ter)	7428	VHL	Pathogenic	281860296	RCV000177084;	N	MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004	3	10191593	10191593	NM_000551.3:c.586A>T	NP_000542.1:p.Lys196Ter	NC_000003.11:g.10191593A>T	-	C0019562 193300 Von Hippel-Lindau syndrome
NM_000551.3(VHL):c.587_590dupAAGA (p.Asp197Glufs)	7428	VHL	Likely pathogenic	869025666	RCV000208841;	N	MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004	3	10191594	10191597	NM_000551.3:c.587_590dupAAGA	NP_000542.1:p.Asp197Glufs	NC_000003.11:g.10191594_10191597dupAAGA	-	C0019562 193300 Von Hippel-Lindau syndrome
NM_000551.3(VHL):c.593T>C (p.Leu198Pro)	7428	VHL	Likely pathogenic	869025667	RCV000208871;	N	MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004	3	10191600	10191600	NM_000551.3:c.593T>C	NP_000542.1:p.Leu198Pro	NC_000003.11:g.10191600T>C	-	C0019562 193300 Von Hippel-Lindau syndrome
NM_000551.3(VHL):c.598C>T (p.Arg200Trp)	7428	VHL	Likely benign;Pathogenic;Uncertain significance	28940298	RCV000148922; RCV000002320; RCV000161094; RCV000122262;	N	Gene:8056,MedGen:C1837915,OMIM:263400,ORPHA:238557; MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004; MedGen:CN169374; MedGen:CN221809	3	10191605	10191605	NM_000551.3:c.598C>T	NP_000542.1:p.Arg200Trp	NC_000003.11:g.10191605C>T	OMIM Allelic Variant:608537.0019	C1837915 263400 Erythrocytosis, familial, 2; CN221809 not provided; CN169374 not specified; C0019562 193300 Von Hippel-Lindau syndrome
NM_000551.3(VHL):c.628C>T (p.Arg210Trp)	7428	VHL	Uncertain significance	774380450	RCV000204248;	N	MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004	3	10191635	10191635	NM_000551.3:c.628C>T	NP_000542.1:p.Arg210Trp	NC_000003.11:g.10191635C>T	-	C0019562 193300 Von Hippel-Lindau syndrome
NM_000551.3(VHL):c.629G>A (p.Arg210Gln)	7428	VHL	Uncertain significance	138780791	RCV000119153; RCV000115743;	N	MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004; MedGen:CN169374	3	10191636	10191636	NM_000551.3:c.629G>A	NP_000542.1:p.Arg210Gln	NC_000003.11:g.10191636G>A	-	CN169374 not specified; C0019562 193300 Von Hippel-Lindau syndrome
NM_000551.3(VHL):c.641G>T (p.Ter214Leu)	7428	VHL	Likely pathogenic	869025668	RCV000208844;	N	MedGen:C0019562,OMIM:193300,ORPHA:892,SNOMED CT:46659004	3	10191648	10191648	NM_000551.3:c.641G>T	NP_000542.1:p.Ter214Leu	NC_000003.11:g.10191648G>T	-	C0019562 193300 Von Hippel-Lindau syndrome