rs1057519394
|
1.000 |
0.280 |
X |
136002195 |
frameshift variant |
T/-
|
delins
|
|
|
Poor school performance
|
|
0.700 |
|
0 |
|
|
rs1064793575
|
0.925 |
0.040 |
X |
136016706 |
frameshift variant |
GT/-
|
delins
|
|
|
Gastrostomy tube feeding in infancy
|
|
0.700 |
|
0 |
|
|
rs1064793575
|
0.925 |
0.040 |
X |
136016706 |
frameshift variant |
GT/-
|
delins
|
|
|
Global developmental delay
|
|
0.700 |
|
0 |
|
|
rs1569525894
|
0.790 |
0.280 |
X |
136040055 |
frameshift variant |
TCTTCCTTAACCACCGC/-
|
delins
|
|
|
Clinodactyly of the 5th finger
|
|
0.700 |
|
0 |
|
|
rs1569525894
|
0.790 |
0.280 |
X |
136040055 |
frameshift variant |
TCTTCCTTAACCACCGC/-
|
delins
|
|
|
Global developmental delay
|
|
0.700 |
|
0 |
|
|
rs1569525894
|
0.790 |
0.280 |
X |
136040055 |
frameshift variant |
TCTTCCTTAACCACCGC/-
|
delins
|
|
|
Short stature
|
|
0.700 |
|
0 |
|
|
rs1569525894
|
0.790 |
0.280 |
X |
136040055 |
frameshift variant |
TCTTCCTTAACCACCGC/-
|
delins
|
|
|
Congenital pectus excavatum
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs1569525894
|
0.790 |
0.280 |
X |
136040055 |
frameshift variant |
TCTTCCTTAACCACCGC/-
|
delins
|
|
|
Secondary microcephaly
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1569525894
|
0.790 |
0.280 |
X |
136040055 |
frameshift variant |
TCTTCCTTAACCACCGC/-
|
delins
|
|
|
Esotropia
|
Eye Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1064793575
|
0.925 |
0.040 |
X |
136016706 |
frameshift variant |
GT/-
|
delins
|
|
|
Recurrent respiratory infections
|
Infections; Respiratory Tract Diseases
|
0.700 |
|
0 |
|
|
rs1569525894
|
0.790 |
0.280 |
X |
136040055 |
frameshift variant |
TCTTCCTTAACCACCGC/-
|
delins
|
|
|
Impaired use of nonverbal behaviors
|
Mental Disorders
|
0.700 |
|
0 |
|
|
rs1569525894
|
0.790 |
0.280 |
X |
136040055 |
frameshift variant |
TCTTCCTTAACCACCGC/-
|
delins
|
|
|
Autistic Disorder
|
Mental Disorders
|
0.700 |
|
0 |
|
|
rs1064793575
|
0.925 |
0.040 |
X |
136016706 |
frameshift variant |
GT/-
|
delins
|
|
|
Scoliosis, unspecified
|
Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs1064793575
|
0.925 |
0.040 |
X |
136016706 |
frameshift variant |
GT/-
|
delins
|
|
|
Sleep disturbances
|
Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs1569525894
|
0.790 |
0.280 |
X |
136040055 |
frameshift variant |
TCTTCCTTAACCACCGC/-
|
delins
|
|
|
Focal white matter lesions
|
Pathological Conditions, Signs and Symptoms
|
0.700 |
|
0 |
|
|
rs1556617455
|
1.000 |
0.280 |
X |
136002214 |
splice donor variant |
G/A
|
snv
|
|
|
Mental Retardation, X-Linked, Syndromic, Christianson Type
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
1.000 |
1 |
2008 |
2008 |
rs398124224
|
1.000 |
0.280 |
X |
136012979 |
stop gained |
C/T
|
snv
|
|
|
Mental Retardation, X-Linked, Syndromic, Christianson Type
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.010 |
1.000 |
1 |
2013 |
2013 |
rs1057519394
|
1.000 |
0.280 |
X |
136002195 |
frameshift variant |
T/-
|
delins
|
|
|
Mental Retardation, X-Linked, Syndromic, Christianson Type
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs122461162
|
1.000 |
0.280 |
X |
136024365 |
stop gained |
C/T
|
snv
|
|
|
Mental Retardation, X-Linked, Syndromic, Christianson Type
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs1569525357
|
1.000 |
0.280 |
X |
136024339 |
missense variant |
G/A
|
snv
|
|
|
Mental Retardation, X-Linked, Syndromic, Christianson Type
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs398122849
|
1.000 |
0.280 |
X |
136010554 |
inframe deletion |
GGTGCTGCT/-
|
del
|
|
|
Mental Retardation, X-Linked, Syndromic, Christianson Type
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs398123003
|
1.000 |
0.280 |
X |
136030154 |
stop gained |
G/T
|
snv
|
|
|
Mental Retardation, X-Linked, Syndromic, Christianson Type
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs587784398
|
1.000 |
0.280 |
X |
135985685 |
frameshift variant |
G/-
|
del
|
|
|
Mental Retardation, X-Linked, Syndromic, Christianson Type
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs587784399
|
1.000 |
0.280 |
X |
136044696 |
stop gained |
T/G
|
snv
|
|
|
Mental Retardation, X-Linked, Syndromic, Christianson Type
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs730882187
|
1.000 |
0.280 |
X |
135998188 |
splice region variant |
AA/CC
|
mnv
|
|
|
Mental Retardation, X-Linked, Syndromic, Christianson Type
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|