rs1557217723
|
1.000 |
0.120 |
X |
77875573 |
stop gained |
G/A
|
snv
|
|
|
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs1569547876
|
1.000 |
|
X |
77841252 |
stop gained |
G/A
|
snv
|
|
|
Hepatomegaly
|
Pathological Conditions, Signs and Symptoms; Digestive System Diseases
|
0.700 |
|
0 |
|
|
rs1569547876
|
1.000 |
|
X |
77841252 |
stop gained |
G/A
|
snv
|
|
|
Global developmental delay
|
|
0.700 |
|
0 |
|
|
rs1569547876
|
1.000 |
|
X |
77841252 |
stop gained |
G/A
|
snv
|
|
|
Congenital Disorders of Glycosylation
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1569547876
|
1.000 |
|
X |
77841252 |
stop gained |
G/A
|
snv
|
|
|
Facial dysmorphism, mild
|
|
0.700 |
|
0 |
|
|
rs1569547878
|
1.000 |
0.120 |
X |
77841305 |
stop gained |
A/C
|
snv
|
|
|
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs1569548146
|
1.000 |
0.120 |
X |
77870849 |
frameshift variant |
-/A
|
delins
|
|
|
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs200934080
|
1.000 |
0.120 |
X |
77895397 |
stop gained |
C/G;T
|
snv
|
8.2E-05
|
|
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs373260156
|
1.000 |
|
X |
77830825 |
missense variant |
T/C;G
|
snv
|
1.2E-05
|
|
Facial dysmorphism, mild
|
|
0.700 |
|
0 |
|
|
rs373260156
|
1.000 |
|
X |
77830825 |
missense variant |
T/C;G
|
snv
|
1.2E-05
|
|
Congenital Disorders of Glycosylation
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs373260156
|
1.000 |
|
X |
77830825 |
missense variant |
T/C;G
|
snv
|
1.2E-05
|
|
Global developmental delay
|
|
0.700 |
|
0 |
|
|
rs387906724
|
1.000 |
0.120 |
X |
77870885 |
stop gained |
G/A
|
snv
|
|
|
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs782474570
|
1.000 |
0.120 |
X |
77895441 |
frameshift variant |
TT/-
|
delins
|
|
1.3E-04
|
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|