rs128622212
|
1.000 |
0.120 |
X |
101349910 |
missense variant |
A/G
|
snv
|
|
|
X-linked agammaglobulinemia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases
|
0.800 |
1.000 |
20 |
1994 |
2000 |
rs80356560
|
1.000 |
0.280 |
X |
101346595 |
missense variant |
G/C
|
snv
|
|
|
MOHR-TRANEBJAERG SYNDROME
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Mental Disorders; Otorhinolaryngologic Diseases; Behavior and Behavior Mechanisms
|
0.800 |
1.000 |
4 |
2000 |
2002 |
rs80356559
|
1.000 |
0.280 |
X |
101348553 |
stop gained |
G/A
|
snv
|
|
|
MOHR-TRANEBJAERG SYNDROME
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Mental Disorders; Otorhinolaryngologic Diseases; Behavior and Behavior Mechanisms
|
0.710 |
1.000 |
1 |
2007 |
2007 |
rs1054894
|
1.000 |
0.280 |
X |
101346555 |
stop gained |
G/A
|
snv
|
|
|
MOHR-TRANEBJAERG SYNDROME
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Mental Disorders; Otorhinolaryngologic Diseases; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs111033631
|
0.925 |
0.280 |
X |
101348595 |
stop gained |
C/A;G
|
snv
|
5.5E-06
|
|
MOHR-TRANEBJAERG SYNDROME
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Mental Disorders; Otorhinolaryngologic Diseases; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs1555976766
|
1.000 |
|
X |
101349919 |
frameshift variant |
C/-
|
del
|
|
|
AGAMMAGLOBULINEMIA 1, AUTOSOMAL RECESSIVE
|
|
0.700 |
|
0 |
|
|
rs869320664
|
1.000 |
0.280 |
X |
101348549 |
frameshift variant |
A/-
|
del
|
|
|
MOHR-TRANEBJAERG SYNDROME
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Mental Disorders; Otorhinolaryngologic Diseases; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs869320665
|
1.000 |
0.280 |
X |
101348592 |
frameshift variant |
C/-
|
delins
|
|
|
MOHR-TRANEBJAERG SYNDROME
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Mental Disorders; Otorhinolaryngologic Diseases; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs869320666
|
1.000 |
0.280 |
X |
101346683 |
3 prime UTR variant |
T/G
|
snv
|
|
|
MOHR-TRANEBJAERG SYNDROME
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Mental Disorders; Otorhinolaryngologic Diseases; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs869320667
|
1.000 |
0.280 |
X |
101348538 |
frameshift variant |
A/-
|
delins
|
|
|
MOHR-TRANEBJAERG SYNDROME
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Mental Disorders; Otorhinolaryngologic Diseases; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs869320733
|
1.000 |
0.280 |
X |
101346636 |
frameshift variant |
CCCAGGCTTG/-
|
delins
|
|
|
MOHR-TRANEBJAERG SYNDROME
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Mental Disorders; Otorhinolaryngologic Diseases; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs111033631
|
0.925 |
0.280 |
X |
101348595 |
stop gained |
C/A;G
|
snv
|
5.5E-06
|
|
Jensen syndrome
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases; Mental Disorders; Otorhinolaryngologic Diseases
|
0.010 |
1.000 |
1 |
2001 |
2001 |