rs1060503552
|
0.925 |
0.160 |
3 |
10142073 |
frameshift variant |
TT/-
|
del
|
|
|
Von Hippel-Lindau Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1064793878
|
1.000 |
0.120 |
3 |
10149874 |
missense variant |
T/C
|
snv
|
|
|
Von Hippel-Lindau Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1064796408
|
0.925 |
0.160 |
3 |
10142023 |
frameshift variant |
GGCCCGTGCTGCGC/-
|
delins
|
|
|
Von Hippel-Lindau Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1131690964
|
1.000 |
0.120 |
3 |
10142124 |
frameshift variant |
G/-
|
delins
|
|
|
Von Hippel-Lindau Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs143985153
|
1.000 |
0.120 |
3 |
10142116 |
missense variant |
A/C;G;T
|
snv
|
|
|
Von Hippel-Lindau Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1553619402
|
1.000 |
0.120 |
3 |
10142035 |
frameshift variant |
-/G
|
delins
|
|
|
Von Hippel-Lindau Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1553619415
|
1.000 |
0.120 |
3 |
10142052 |
frameshift variant |
-/G
|
delins
|
|
|
Von Hippel-Lindau Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1553619923
|
1.000 |
0.120 |
3 |
10146488 |
coding sequence variant |
-/TAACAACCTTTGCTTGTCCCGATAGGTCACCTTTGGCTCTTCAGAGATGCAGGGA
|
delins
|
|
|
Von Hippel-Lindau Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1553619952
|
1.000 |
0.120 |
3 |
10146550 |
frameshift variant |
A/-
|
del
|
|
|
Von Hippel-Lindau Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1553619976
|
0.925 |
0.160 |
3 |
10146593 |
frameshift variant |
-/A
|
delins
|
|
|
Von Hippel-Lindau Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1553620331
|
1.000 |
0.120 |
3 |
10149854 |
frameshift variant |
ACTGGACATCGT/TC
|
delins
|
|
|
Von Hippel-Lindau Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1553620362
|
1.000 |
0.120 |
3 |
10149907 |
frameshift variant |
GA/-
|
delins
|
|
|
Von Hippel-Lindau Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1559425925
|
1.000 |
0.120 |
3 |
10142079 |
frameshift variant |
A/-
|
delins
|
|
|
Von Hippel-Lindau Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1559425951
|
1.000 |
0.120 |
3 |
10142085 |
frameshift variant |
GTCCGCGCGTCGTGCTGCCCGTA/-
|
delins
|
|
|
Von Hippel-Lindau Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1559426095
|
1.000 |
0.120 |
3 |
10142137 |
frameshift variant |
TACC/-
|
delins
|
|
|
Von Hippel-Lindau Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1559426115
|
1.000 |
0.120 |
3 |
10142141 |
stop gained |
C/G
|
snv
|
|
|
Von Hippel-Lindau Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1559426145
|
1.000 |
0.120 |
3 |
10142150 |
frameshift variant |
-/CC
|
delins
|
|
|
Von Hippel-Lindau Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1559428051
|
1.000 |
0.120 |
3 |
10146517 |
frameshift variant |
-/C
|
delins
|
|
|
Von Hippel-Lindau Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1559428056
|
1.000 |
0.120 |
3 |
10146523 |
stop gained |
G/A
|
snv
|
|
|
Von Hippel-Lindau Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1559428107
|
1.000 |
0.120 |
3 |
10146552 |
frameshift variant |
G/-
|
delins
|
|
|
Von Hippel-Lindau Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1559428128
|
1.000 |
0.120 |
3 |
10146565 |
frameshift variant |
-/CC
|
delins
|
|
|
Von Hippel-Lindau Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1559428134
|
1.000 |
0.120 |
3 |
10146568 |
frameshift variant |
A/-
|
delins
|
|
|
Von Hippel-Lindau Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1559428164
|
1.000 |
0.120 |
3 |
10146585 |
frameshift variant |
C/-
|
delins
|
|
|
Von Hippel-Lindau Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1559428180
|
1.000 |
0.120 |
3 |
10146592 |
protein altering variant |
TCAATGTTG/ACAATTATTTGTGCCATCTCTCAA
|
delins
|
|
|
Von Hippel-Lindau Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1559428217
|
1.000 |
0.120 |
3 |
10146605 |
frameshift variant |
CAGCCTA/-
|
delins
|
|
|
Von Hippel-Lindau Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|