rs1569513017
|
1.000 |
|
X |
77508625 |
frameshift variant |
A/-
|
del
|
|
|
Global developmental delay
|
|
0.700 |
|
0 |
|
|
rs1569513021
|
1.000 |
|
X |
77508631 |
splice acceptor variant |
T/C
|
snv
|
|
|
MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED
|
|
0.700 |
|
0 |
|
|
rs1569515457
|
1.000 |
0.120 |
X |
77520796 |
stop gained |
G/A
|
snv
|
|
|
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs122445100
|
1.000 |
0.120 |
X |
77520826 |
stop gained |
C/A
|
snv
|
|
|
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs122445099
|
0.827 |
0.400 |
X |
77520832 |
stop gained |
G/A
|
snv
|
|
|
Osteosarcoma
|
Neoplasms
|
0.700 |
|
0 |
|
|
rs122445099
|
0.827 |
0.400 |
X |
77520832 |
stop gained |
G/A
|
snv
|
|
|
Severe intellectual disability
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs122445099
|
0.827 |
0.400 |
X |
77520832 |
stop gained |
G/A
|
snv
|
|
|
Cryptorchidism
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs122445099
|
0.827 |
0.400 |
X |
77520832 |
stop gained |
G/A
|
snv
|
|
|
Ambiguous Genitalia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs122445099
|
0.827 |
0.400 |
X |
77520832 |
stop gained |
G/A
|
snv
|
|
|
Microcephaly (physical finding)
|
|
0.700 |
|
0 |
|
|
rs122445099
|
0.827 |
0.400 |
X |
77520832 |
stop gained |
G/A
|
snv
|
|
|
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs122445112
|
0.925 |
0.200 |
X |
77523290 |
missense variant |
T/C
|
snv
|
5.5E-06
|
|
Juberg-Marsidi syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
6 |
1996 |
2005 |
rs122445112
|
0.925 |
0.200 |
X |
77523290 |
missense variant |
T/C
|
snv
|
5.5E-06
|
|
MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED
|
|
0.700 |
|
0 |
|
|
rs199474698
|
1.000 |
0.120 |
X |
77523383 |
missense variant |
G/A
|
snv
|
|
|
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Hemic and Lymphatic Diseases
|
0.010 |
1.000 |
1 |
2011 |
2011 |
rs122445098
|
1.000 |
0.120 |
X |
77558685 |
missense variant |
T/C
|
snv
|
|
|
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Hemic and Lymphatic Diseases
|
0.800 |
1.000 |
12 |
1995 |
2011 |
rs122445101
|
0.882 |
0.240 |
X |
77558781 |
missense variant |
C/T
|
snv
|
|
|
Juberg-Marsidi syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases
|
0.800 |
1.000 |
6 |
1996 |
2005 |
rs122445101
|
0.882 |
0.240 |
X |
77558781 |
missense variant |
C/T
|
snv
|
|
|
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs122445101
|
0.882 |
0.240 |
X |
77558781 |
missense variant |
C/T
|
snv
|
|
|
MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED
|
|
0.700 |
|
0 |
|
|
rs1057517948
|
1.000 |
0.200 |
X |
77574322 |
missense variant |
C/A;T
|
snv
|
|
|
Juberg-Marsidi syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs122445097
|
1.000 |
0.120 |
X |
77574326 |
missense variant |
A/G
|
snv
|
|
|
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Hemic and Lymphatic Diseases
|
0.800 |
1.000 |
12 |
1995 |
2011 |
rs122445110
|
0.882 |
0.200 |
X |
77589902 |
missense variant |
A/G
|
snv
|
|
|
Multiple congenital anomalies
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
0.700 |
1.000 |
21 |
1992 |
2017 |
rs122445110
|
0.882 |
0.200 |
X |
77589902 |
missense variant |
A/G
|
snv
|
|
|
Dysmorphic features
|
|
0.700 |
1.000 |
21 |
1992 |
2017 |
rs122445110
|
0.882 |
0.200 |
X |
77589902 |
missense variant |
A/G
|
snv
|
|
|
Juberg-Marsidi syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
6 |
1996 |
2005 |
rs122445110
|
0.882 |
0.200 |
X |
77589902 |
missense variant |
A/G
|
snv
|
|
|
MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED
|
|
0.700 |
|
0 |
|
|
rs1060499658
|
1.000 |
0.120 |
X |
77589929 |
missense variant |
C/T
|
snv
|
|
|
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs122445096
|
1.000 |
0.120 |
X |
77593702 |
missense variant |
T/A
|
snv
|
|
|
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Hemic and Lymphatic Diseases
|
0.800 |
1.000 |
12 |
1995 |
2011 |