rs386834144
|
1.000 |
0.240 |
6 |
41159790 |
splice donor variant |
A/G
|
snv
|
8.0E-06
|
|
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Infections; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
0.710 |
1.000 |
1 |
2019 |
2019 |
rs104893998
|
0.925 |
0.240 |
6 |
41161421 |
stop gained |
C/T
|
snv
|
8.0E-06
|
|
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Infections; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2003 |
2003 |
rs121908402
|
0.882 |
0.280 |
6 |
41161277 |
missense variant |
A/C
|
snv
|
1.2E-05
|
|
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Infections; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2005 |
2005 |
rs386834142
|
1.000 |
0.240 |
6 |
41163037 |
splice region variant |
CCT/-
|
delins
|
|
|
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Infections; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2008 |
2008 |
rs104894002
|
0.790 |
0.320 |
6 |
41161557 |
stop gained |
G/A
|
snv
|
2.0E-05
|
2.1E-05
|
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Infections; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs201258663
|
0.807 |
0.320 |
6 |
41161457 |
missense variant |
G/A
|
snv
|
5.6E-05
|
4.9E-05
|
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Infections; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs386834140
|
1.000 |
0.240 |
6 |
41161385 |
frameshift variant |
C/-
|
delins
|
|
|
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Infections; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs386834141
|
1.000 |
0.240 |
6 |
41161341 |
frameshift variant |
C/-
|
del
|
|
|
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Infections; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs386834143
|
0.925 |
0.240 |
6 |
41163043 |
stop gained |
C/A
|
snv
|
|
|
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Infections; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs797044603
|
0.827 |
0.320 |
6 |
41161541 |
missense variant |
T/C
|
snv
|
4.0E-06
|
|
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Infections; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|