rs1365573219
|
1.000 |
0.080 |
10 |
95626722 |
missense variant |
G/C
|
snv
|
|
7.0E-06
|
Cutis Laxa, Autosomal Dominant
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.010 |
1.000 |
1 |
2017 |
2017 |
rs4417206
|
1.000 |
0.080 |
10 |
95636713 |
intron variant |
A/C
|
snv
|
|
0.28
|
Alzheimer Disease, Late Onset
|
Nervous System Diseases; Mental Disorders
|
0.010 |
1.000 |
1 |
2006 |
2006 |
rs768323248
|
0.925 |
0.080 |
10 |
95637357 |
missense variant |
C/T
|
snv
|
1.6E-05
|
7.0E-06
|
Cutis Laxa, Autosomal Dominant
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.010 |
1.000 |
1 |
2017 |
2017 |
rs121434582
|
1.000 |
0.280 |
10 |
95643044 |
missense variant |
C/A;T
|
snv
|
1.2E-05
|
|
De Barsy syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
1.000 |
4 |
2000 |
2014 |
rs864321670
|
0.763 |
0.320 |
10 |
95633012 |
missense variant |
C/T
|
snv
|
|
|
De Barsy syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
1.000 |
2 |
2015 |
2016 |
rs864321670
|
0.763 |
0.320 |
10 |
95633012 |
missense variant |
C/T
|
snv
|
|
|
CUTIS LAXA, AUTOSOMAL DOMINANT 3
|
|
0.700 |
1.000 |
2 |
2015 |
2016 |
rs768323248
|
0.925 |
0.080 |
10 |
95637357 |
missense variant |
C/T
|
snv
|
1.6E-05
|
7.0E-06
|
SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE
|
|
0.700 |
1.000 |
1 |
2015 |
2015 |
rs1555262375
|
1.000 |
0.280 |
10 |
95633026 |
frameshift variant |
A/-
|
del
|
|
|
De Barsy syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs1555264243
|
1.000 |
0.280 |
10 |
95643118 |
frameshift variant |
C/-
|
del
|
|
|
De Barsy syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs2275272
|
1.000 |
0.280 |
10 |
95628405 |
missense variant |
G/A
|
snv
|
0.11
|
0.10
|
De Barsy syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs537043237
|
1.000 |
0.280 |
10 |
95606856 |
missense variant |
C/T
|
snv
|
1.2E-05
|
2.1E-05
|
De Barsy syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs587777858
|
1.000 |
0.280 |
10 |
95610272 |
frameshift variant |
G/-
|
delins
|
|
|
De Barsy syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs762271422
|
1.000 |
0.080 |
10 |
95606919 |
missense variant |
G/A;C
|
snv
|
8.0E-06;
5.2E-05
|
|
SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs762742204
|
1.000 |
0.280 |
10 |
95621225 |
missense variant |
G/A
|
snv
|
8.8E-05
|
|
De Barsy syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs863223315
|
1.000 |
0.280 |
10 |
95613741 |
splice donor variant |
C/T
|
snv
|
|
7.0E-06
|
De Barsy syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs863225045
|
0.790 |
0.360 |
10 |
95637327 |
missense variant |
C/A;T
|
snv
|
|
|
Global developmental delay
|
|
0.700 |
|
0 |
|
|
rs863225045
|
0.790 |
0.360 |
10 |
95637327 |
missense variant |
C/A;T
|
snv
|
|
|
Congenital clubfoot
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs863225045
|
0.790 |
0.360 |
10 |
95637327 |
missense variant |
C/A;T
|
snv
|
|
|
Late closure of anterior fontanel
|
|
0.700 |
|
0 |
|
|
rs863225045
|
0.790 |
0.360 |
10 |
95637327 |
missense variant |
C/A;T
|
snv
|
|
|
Adducted thumb
|
Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs863225045
|
0.790 |
0.360 |
10 |
95637327 |
missense variant |
C/A;T
|
snv
|
|
|
Osteopenia
|
Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs863225045
|
0.790 |
0.360 |
10 |
95637327 |
missense variant |
C/A;T
|
snv
|
|
|
Muscle hypotonia
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs863225045
|
0.790 |
0.360 |
10 |
95637327 |
missense variant |
C/A;T
|
snv
|
|
|
Joint hyperflexibility
|
|
0.700 |
|
0 |
|
|
rs863225045
|
0.790 |
0.360 |
10 |
95637327 |
missense variant |
C/A;T
|
snv
|
|
|
Microcephaly (physical finding)
|
|
0.700 |
|
0 |
|
|
rs863225045
|
0.790 |
0.360 |
10 |
95637327 |
missense variant |
C/A;T
|
snv
|
|
|
Postnatal growth retardation
|
|
0.700 |
|
0 |
|
|
rs863225045
|
0.790 |
0.360 |
10 |
95637327 |
missense variant |
C/A;T
|
snv
|
|
|
Brisk reflexes
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
0.700 |
|
0 |
|
|