rs137852540
|
0.925 |
0.080 |
X |
107640936 |
missense variant |
A/G
|
snv
|
|
|
Muscle hypotonia
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
0.700 |
1.000 |
12 |
1993 |
2015 |
rs137852540
|
0.925 |
0.080 |
X |
107640936 |
missense variant |
A/G
|
snv
|
|
|
Dysmorphic features
|
|
0.700 |
1.000 |
12 |
1993 |
2015 |
rs1556299881
|
1.000 |
|
X |
107640900 |
splice acceptor variant |
A/G
|
snv
|
|
|
Multiple congenital anomalies
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
0.700 |
1.000 |
12 |
1993 |
2015 |
rs1556299881
|
1.000 |
|
X |
107640900 |
splice acceptor variant |
A/G
|
snv
|
|
|
Dysmorphic features
|
|
0.700 |
1.000 |
12 |
1993 |
2015 |
rs137852541
|
1.000 |
0.080 |
X |
107645193 |
missense variant |
G/C
|
snv
|
|
|
Phosphoribosylpyrophosphate Synthetase Superactivity
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.800 |
1.000 |
2 |
1995 |
2013 |
rs137852542
|
1.000 |
0.080 |
X |
107639326 |
missense variant |
G/C
|
snv
|
|
|
Phosphoribosylpyrophosphate Synthetase Superactivity
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.800 |
1.000 |
2 |
1995 |
2013 |
rs137852543
|
1.000 |
0.080 |
X |
107640980 |
missense variant |
C/A
|
snv
|
|
|
Phosphoribosylpyrophosphate Synthetase Superactivity
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.800 |
1.000 |
2 |
1995 |
2013 |
rs137852544
|
1.000 |
0.080 |
X |
107645215 |
missense variant |
C/T
|
snv
|
|
|
Phosphoribosylpyrophosphate Synthetase Superactivity
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.800 |
1.000 |
2 |
1995 |
2013 |
rs137852545
|
1.000 |
0.080 |
X |
107645225 |
missense variant |
C/G
|
snv
|
|
|
Phosphoribosylpyrophosphate Synthetase Superactivity
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.800 |
1.000 |
2 |
1995 |
2013 |
rs137852540
|
0.925 |
0.080 |
X |
107640936 |
missense variant |
A/G
|
snv
|
|
|
Phosphoribosylpyrophosphate Synthetase Superactivity
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.800 |
1.000 |
1 |
1995 |
1995 |
rs398122855
|
0.882 |
0.240 |
X |
107642384 |
missense variant |
G/C
|
snv
|
|
|
Respiratory Tract Infections
|
Infections; Respiratory Tract Diseases
|
0.010 |
1.000 |
1 |
2012 |
2012 |
rs398122855
|
0.882 |
0.240 |
X |
107642384 |
missense variant |
G/C
|
snv
|
|
|
Global developmental delay
|
|
0.010 |
1.000 |
1 |
2012 |
2012 |
rs398122855
|
0.882 |
0.240 |
X |
107642384 |
missense variant |
G/C
|
snv
|
|
|
Developmental delay (disorder)
|
Mental Disorders
|
0.010 |
1.000 |
1 |
2012 |
2012 |
rs398122855
|
0.882 |
0.240 |
X |
107642384 |
missense variant |
G/C
|
snv
|
|
|
Phosphoribosylpyrophosphate Synthetase Superactivity
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.010 |
1.000 |
1 |
2012 |
2012 |
rs587781261
|
0.925 |
0.160 |
X |
107640932 |
missense variant |
G/T
|
snv
|
|
|
Nonsyndromic sensorineural hearing loss
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
1 |
2015 |
2015 |
rs587781261
|
0.925 |
0.160 |
X |
107640932 |
missense variant |
G/T
|
snv
|
|
|
Sensorineural Hearing Loss (disorder)
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.010 |
1.000 |
1 |
2015 |
2015 |
rs587781261
|
0.925 |
0.160 |
X |
107640932 |
missense variant |
G/T
|
snv
|
|
|
DEAFNESS, X-LINKED 1 (disorder)
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
1 |
2015 |
2015 |
rs587781262
|
0.882 |
0.240 |
X |
107640938 |
missense variant |
A/G
|
snv
|
|
|
Peripheral Neuropathy
|
Nervous System Diseases
|
0.010 |
1.000 |
1 |
2015 |
2015 |
rs587781262
|
0.882 |
0.240 |
X |
107640938 |
missense variant |
A/G
|
snv
|
|
|
CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
1 |
2015 |
2015 |
rs587781262
|
0.882 |
0.240 |
X |
107640938 |
missense variant |
A/G
|
snv
|
|
|
Sensorineural Hearing Loss (disorder)
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
1 |
2015 |
2015 |
rs587781262
|
0.882 |
0.240 |
X |
107640938 |
missense variant |
A/G
|
snv
|
|
|
DEAFNESS, X-LINKED 1 (disorder)
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
1 |
2015 |
2015 |
rs587781262
|
0.882 |
0.240 |
X |
107640938 |
missense variant |
A/G
|
snv
|
|
|
hearing impairment
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.010 |
1.000 |
1 |
2015 |
2015 |
rs587781262
|
0.882 |
0.240 |
X |
107640938 |
missense variant |
A/G
|
snv
|
|
|
Peripheral Nervous System Diseases
|
Nervous System Diseases
|
0.010 |
1.000 |
1 |
2015 |
2015 |
rs587781263
|
0.925 |
0.240 |
X |
107650000 |
missense variant |
G/T
|
snv
|
|
|
Peripheral Neuropathy
|
Nervous System Diseases
|
0.010 |
1.000 |
1 |
2015 |
2015 |
rs587781263
|
0.925 |
0.240 |
X |
107650000 |
missense variant |
G/T
|
snv
|
|
|
CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
1 |
2015 |
2015 |