rs112638391
|
1.000 |
0.160 |
2 |
237374900 |
missense variant |
C/T
|
snv
|
3.0E-03
|
3.0E-03
|
Ullrich congenital muscular dystrophy 1
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs114284669
|
1.000 |
0.120 |
2 |
237376802 |
missense variant |
T/C;G
|
snv
|
2.1E-04
|
|
BETHLEM MYOPATHY 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs121434553
|
1.000 |
0.120 |
2 |
237367151 |
missense variant |
C/T
|
snv
|
|
|
BETHLEM MYOPATHY 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.800 |
|
0 |
|
|
rs121434554
|
1.000 |
0.160 |
2 |
237381419 |
stop gained |
G/A
|
snv
|
|
|
Ullrich congenital muscular dystrophy 1
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs139260335
|
1.000 |
0.120 |
2 |
237344571 |
missense variant |
T/C
|
snv
|
6.1E-04
|
5.6E-04
|
BETHLEM MYOPATHY 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1553553313
|
1.000 |
0.120 |
2 |
237359334 |
splice acceptor variant |
TTTGTAAAACAAAACCAAGCTTGCATACCTTCTCTCCTGGGAATCCCCGAGAGCCCTAGAAGGCAAGGCGATAGGGGAAGCATTAGCTTTTCCTGCAGGGCTGGTCCCTCGGGCAGAAGAGGCCAAGGGCTGTTCCCCCACTCCACCCCATTTGAATGTTGCAGTGTCTGAAAATGTAATATTAGAGTCCTACCCCTTTGGATTCCTCTCTCACCACCACGTGCGATGTTTTAAAACTAAAACTAGAACTGAATGCTTGGGTGGTCTTGGCTCCCTGGGCCGGCGGGGGTGGACCCCAAAACCCAGGGCAAGGAGCTGACTTTGTAACTTTGCAGCCCTTCCCTTCAGCACCTGCCTTCAAACTTCAGCAAACAGAGAAGCAAGTTCACCAGCCTTCAACCCACCTGCTGTCCTCTCACTCCACTCCCTTCCCTGACTGCTCCCACGGTCCAGGGCCGGGGCCGTGGGCACCAGCCTACCCTCCGCCCTGGCCCATGTTCTCTCCTTGTGAGGGTTTCCTGGCTTCTTCATGTTTCCACAGGAAACTATTTCTCCATTCTCAGGCTCCCCACCAGCTGCAGCCCCTGCTCCTGAACCCACCCTGCTCAGAACTGCCTTCCAATGAGAGGTCACGGGCTGCTGAATGCTGAGGTCAAGAAGCCTGGACCAGCGCCTCCCTCCCTGGCAGCATCTGGAGAAACTGCGAGTCACCTGACCCCTCCCCACGCTAGCAACCCCATCACCCACGCCTCACCTTTACTCCTCTCTGGCCCGGGCAGCCCTGGAAACCTTGAGTGCCGTTCACACCAGGCGGACCACGCTCAC/-
|
del
|
|
|
BETHLEM MYOPATHY 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1553561409
|
1.000 |
0.120 |
2 |
237377222 |
stop gained |
G/A
|
snv
|
|
|
BETHLEM MYOPATHY 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1559225974
|
1.000 |
0.120 |
2 |
237359238 |
inframe deletion |
CCT/-
|
delins
|
|
|
BETHLEM MYOPATHY 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1559261557
|
1.000 |
0.120 |
2 |
237381113 |
stop gained |
G/A
|
snv
|
|
|
BETHLEM MYOPATHY 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs398124119
|
0.882 |
0.160 |
2 |
237395121 |
stop gained |
G/A
|
snv
|
4.4E-05
|
2.8E-05
|
Ullrich congenital muscular dystrophy 1
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs398124119
|
0.882 |
0.160 |
2 |
237395121 |
stop gained |
G/A
|
snv
|
4.4E-05
|
2.8E-05
|
DYSTONIA 27
|
|
0.700 |
|
0 |
|
|
rs398124119
|
0.882 |
0.160 |
2 |
237395121 |
stop gained |
G/A
|
snv
|
4.4E-05
|
2.8E-05
|
BETHLEM MYOPATHY 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs398124126
|
0.882 |
0.160 |
2 |
237361120 |
splice donor variant |
C/T
|
snv
|
|
|
ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, AUTOSOMAL DOMINANT
|
|
0.700 |
|
0 |
|
|
rs535661345
|
0.925 |
0.120 |
2 |
237372173 |
missense variant |
C/T
|
snv
|
2.0E-04
|
2.1E-05
|
BETHLEM MYOPATHY 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs535661345
|
0.925 |
0.120 |
2 |
237372173 |
missense variant |
C/T
|
snv
|
2.0E-04
|
2.1E-05
|
Myopathy
|
Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs535661345
|
0.925 |
0.120 |
2 |
237372173 |
missense variant |
C/T
|
snv
|
2.0E-04
|
2.1E-05
|
Global developmental delay
|
|
0.700 |
|
0 |
|
|
rs761796175
|
1.000 |
0.120 |
2 |
237377336 |
stop gained |
G/A
|
snv
|
4.2E-06
|
|
BETHLEM MYOPATHY 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs763348222
|
1.000 |
0.120 |
2 |
237348645 |
missense variant |
C/T
|
snv
|
6.4E-05
|
|
BETHLEM MYOPATHY 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs764193290
|
0.882 |
0.160 |
2 |
237342163 |
splice acceptor variant |
T/-
|
del
|
4.0E-06
|
|
Ullrich congenital muscular dystrophy 1
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs764193290
|
0.882 |
0.160 |
2 |
237342163 |
splice acceptor variant |
T/-
|
del
|
4.0E-06
|
|
BETHLEM MYOPATHY 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs764193290
|
0.882 |
0.160 |
2 |
237342163 |
splice acceptor variant |
T/-
|
del
|
4.0E-06
|
|
DYSTONIA 27
|
|
0.700 |
|
0 |
|
|
rs766488017
|
1.000 |
0.120 |
2 |
237371896 |
missense variant |
T/A
|
snv
|
1.0E-04
|
4.2E-05
|
BETHLEM MYOPATHY 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs767517186
|
0.925 |
0.120 |
2 |
237334890 |
splice acceptor variant |
C/G
|
snv
|
1.6E-05
|
4.2E-05
|
DYSTONIA 27
|
|
0.700 |
|
0 |
|
|
rs771941724
|
1.000 |
0.160 |
2 |
237363366 |
stop gained |
G/A;T
|
snv
|
4.0E-06;
4.0E-06
|
|
Ullrich congenital muscular dystrophy 1
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs786205870
|
1.000 |
|
2 |
237344358 |
missense variant |
C/T
|
snv
|
8.0E-06
|
2.8E-05
|
DYSTONIA 27
|
|
0.700 |
|
0 |
|
|