Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1060503552
rs1060503552
VHL
0.925 0.160 3 10142073 frameshift variant TT/- del
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		0.700 0
dbSNP: rs1064796408
rs1064796408
VHL
0.925 0.160 3 10142023 frameshift variant GGCCCGTGCTGCGC/- delins
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		0.700 0
dbSNP: rs1131690964
rs1131690964
VHL
1.000 0.120 3 10142124 frameshift variant G/- delins
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		0.700 0
dbSNP: rs143985153
rs143985153
VHL
1.000 0.120 3 10142116 missense variant A/C;G;T snv
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		0.700 0
dbSNP: rs1553619402
rs1553619402
VHL
1.000 0.120 3 10142035 frameshift variant -/G delins
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		0.700 0
dbSNP: rs1553619415
rs1553619415
VHL
1.000 0.120 3 10142052 frameshift variant -/G delins
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		0.700 0
dbSNP: rs1553619923
rs1553619923
VHL
1.000 0.120 3 10146488 coding sequence variant -/TAACAACCTTTGCTTGTCCCGATAGGTCACCTTTGGCTCTTCAGAGATGCAGGGA delins
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		0.700 0
dbSNP: rs1553619952
rs1553619952
VHL
1.000 0.120 3 10146550 frameshift variant A/- del
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		0.700 0
dbSNP: rs1553619976
rs1553619976
VHL
0.925 0.160 3 10146593 frameshift variant -/A delins
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		0.700 0
dbSNP: rs1553620331
rs1553620331
VHL
1.000 0.120 3 10149854 frameshift variant ACTGGACATCGT/TC delins
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		0.700 0
dbSNP: rs1553620362
rs1553620362
VHL
1.000 0.120 3 10149907 frameshift variant GA/- delins
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		0.700 0
dbSNP: rs1559425925
rs1559425925
VHL
1.000 0.120 3 10142079 frameshift variant A/- delins
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		0.700 0
dbSNP: rs1559425951
rs1559425951
VHL
1.000 0.120 3 10142085 frameshift variant GTCCGCGCGTCGTGCTGCCCGTA/- delins
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		0.700 0
dbSNP: rs1559426095
rs1559426095
VHL
1.000 0.120 3 10142137 frameshift variant TACC/- delins
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		0.700 0
dbSNP: rs1559426115
rs1559426115
VHL
1.000 0.120 3 10142141 stop gained C/G snv
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		0.700 0
dbSNP: rs1559426145
rs1559426145
VHL
1.000 0.120 3 10142150 frameshift variant -/CC delins
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		0.700 0
dbSNP: rs1559428051
rs1559428051
VHL
1.000 0.120 3 10146517 frameshift variant -/C delins
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		0.700 0
dbSNP: rs1559428056
rs1559428056
VHL
1.000 0.120 3 10146523 stop gained G/A snv
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		0.700 0
dbSNP: rs1559428107
rs1559428107
VHL
1.000 0.120 3 10146552 frameshift variant G/- delins
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		0.700 0
dbSNP: rs1559428128
rs1559428128
VHL
1.000 0.120 3 10146565 frameshift variant -/CC delins
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		0.700 0
dbSNP: rs1559428134
rs1559428134
VHL
1.000 0.120 3 10146568 frameshift variant A/- delins
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		0.700 0
dbSNP: rs1559428164
rs1559428164
VHL
1.000 0.120 3 10146585 frameshift variant C/- delins
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		0.700 0
dbSNP: rs1559428180
rs1559428180
VHL
1.000 0.120 3 10146592 protein altering variant TCAATGTTG/ACAATTATTTGTGCCATCTCTCAA delins
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		0.700 0
dbSNP: rs1559428217
rs1559428217
VHL
1.000 0.120 3 10146605 frameshift variant CAGCCTA/- delins
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		0.700 0
dbSNP: rs1559428232
rs1559428232
VHL
1.000 0.120 3 10146617 frameshift variant -/G delins
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		0.700 0