VHL, von Hippel-Lindau tumor suppressor, 7428

N. diseases: 47; N. variants: 204
Disease: Von Hippel-Lindau Syndrome ×
Source: CURATED ×
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1553619976
rs1553619976 		0.925 0.160 3 10146593 frameshift variant -/A delins
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs869025624
rs869025624 		1.000 0.120 3 10142139 stop gained -/A delins
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs869025641
rs869025641 		1.000 0.120 3 10146525 frameshift variant -/A ins
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs869025666
rs869025666 		1.000 0.120 3 10149906 frameshift variant -/AAGA delins
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs886041345
rs886041345 		1.000 0.120 3 10142008 frameshift variant -/AGGCCGGG delins
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs1559428051
rs1559428051 		1.000 0.120 3 10146517 frameshift variant -/C delins
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs869025625
rs869025625 		1.000 0.120 3 10142140 frameshift variant -/C delins
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs1559426145
rs1559426145 		1.000 0.120 3 10142150 frameshift variant -/CC delins
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs1559428128
rs1559428128 		1.000 0.120 3 10146565 frameshift variant -/CC delins
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs1553619402
rs1553619402 		1.000 0.120 3 10142035 frameshift variant -/G delins
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs1553619415
rs1553619415 		1.000 0.120 3 10142052 frameshift variant -/G delins
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs1559428232
rs1559428232 		1.000 0.120 3 10146617 frameshift variant -/G delins
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs869025626
rs869025626 		1.000 0.120 3 10142146 frameshift variant -/G delins
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs869025628
rs869025628 		1.000 0.120 3 10142155 frameshift variant -/T delins
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs869025661
rs869025661 		1.000 0.120 3 10149793 frameshift variant -/T delins
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs1553619923
rs1553619923 		1.000 0.120 3 10146488 coding sequence variant -/TAACAACCTTTGCTTGTCCCGATAGGTCACCTTTGGCTCTTCAGAGATGCAGGGA delins
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs398123483
rs398123483 		0.925 0.160 3 10149824 frameshift variant -/TTGTCCGT ins 4.0E-06
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 2 1993 1995
dbSNP: rs1553619952
rs1553619952 		1.000 0.120 3 10146550 frameshift variant A/- del
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs1559425925
rs1559425925 		1.000 0.120 3 10142079 frameshift variant A/- delins
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs1559428134
rs1559428134 		1.000 0.120 3 10146568 frameshift variant A/- delins
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs1559428267
rs1559428267 		1.000 0.120 3 10146635 frameshift variant A/- del
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs1559429711
rs1559429711 		1.000 0.120 3 10149849 frameshift variant A/- del
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs794727253
rs794727253 		0.925 0.160 3 10146621 frameshift variant A/- delins
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs869025623
rs869025623 		1.000 0.120 3 10142115 frameshift variant A/- delins
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs869025646
rs869025646 		1.000 0.120 3 10146574 frameshift variant A/- delins
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases 0.700 0