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 |
|
|
rs1057524153
|
1.000 |
0.120 |
X |
77684527 |
missense variant |
G/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
|
0.700 |
|
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 |
|
|
rs1060499759
|
1.000 |
|
X |
77688879 |
missense variant |
A/T
|
snv
|
|
|
Microcephaly (physical finding)
|
|
0.700 |
|
0 |
|
|
rs1060499759
|
1.000 |
|
X |
77688879 |
missense variant |
A/T
|
snv
|
|
|
Global developmental delay
|
|
0.700 |
|
0 |
|
|
rs1060499760
|
1.000 |
|
X |
77683580 |
missense variant |
G/A
|
snv
|
|
|
Global developmental delay
|
|
0.700 |
|
0 |
|
|
rs1060499760
|
1.000 |
|
X |
77683580 |
missense variant |
G/A
|
snv
|
|
|
Microcephaly (physical finding)
|
|
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 |
|
|
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 |
|
|
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 |
|
|
rs122445102
|
1.000 |
|
X |
77633210 |
missense variant |
G/A
|
snv
|
|
|
MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED
|
|
0.700 |
|
0 |
|
|
rs122445103
|
0.925 |
0.240 |
X |
77688844 |
missense variant |
G/C
|
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 |
|
|
rs122445105
|
0.882 |
0.240 |
X |
77684520 |
missense variant |
G/A
|
snv
|
|
|
Alpha-Thalassemia Myelodysplasia Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs122445105
|
0.882 |
0.240 |
X |
77684520 |
missense variant |
G/A
|
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 |
|
|
rs122445107
|
1.000 |
0.080 |
X |
77697589 |
stop gained |
G/C
|
snv
|
|
|
Alpha-Thalassemia Myelodysplasia Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs122445108
|
0.807 |
0.320 |
X |
77717155 |
stop gained |
G/A
|
snv
|
|
|
Mental Retardation
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs122445108
|
0.807 |
0.320 |
X |
77717155 |
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 |
|
|
rs122445108
|
0.807 |
0.320 |
X |
77717155 |
stop gained |
G/A
|
snv
|
|
|
MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED
|
|
0.700 |
|
0 |
|
|
rs122445108
|
0.807 |
0.320 |
X |
77717155 |
stop gained |
G/A
|
snv
|
|
|
Poor school performance
|
|
0.700 |
|
0 |
|
|