rs1553962198
|
1.000 |
0.280 |
2 |
144404947 |
frameshift variant |
C/-
|
del
|
|
|
Mowat-Wilson syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs1553964145
|
1.000 |
0.280 |
2 |
144429852 |
frameshift variant |
-/C
|
delins
|
|
|
Mowat-Wilson syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs1553964147
|
1.000 |
0.280 |
2 |
144429865 |
frameshift variant |
CA/-
|
delins
|
|
|
Mowat-Wilson syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs1553971826
|
1.000 |
0.280 |
2 |
144517279 |
frameshift variant |
-/T
|
delins
|
|
|
Mowat-Wilson syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs1560604977
|
1.000 |
0.280 |
2 |
144396454 |
stop gained |
G/A
|
snv
|
|
|
Mowat-Wilson syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs1560605892
|
1.000 |
0.280 |
2 |
144398430 |
frameshift variant |
C/-
|
delins
|
|
|
Mowat-Wilson syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs1560606294
|
1.000 |
0.280 |
2 |
144398850 |
frameshift variant |
C/-
|
delins
|
|
|
Mowat-Wilson syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs1560606974
|
1.000 |
0.280 |
2 |
144399616 |
frameshift variant |
-/T
|
delins
|
|
|
Mowat-Wilson syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs1560609721
|
1.000 |
0.280 |
2 |
144404926 |
stop gained |
G/A
|
snv
|
|
|
Mowat-Wilson syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs1560609810
|
1.000 |
0.280 |
2 |
144404995 |
frameshift variant |
-/A
|
delins
|
|
|
Mowat-Wilson syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs1560620837
|
1.000 |
0.280 |
2 |
144429861 |
frameshift variant |
GGCA/-
|
del
|
|
|
Mowat-Wilson syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs397515448
|
1.000 |
0.280 |
2 |
144389885 |
missense variant |
A/G
|
snv
|
|
|
Mowat-Wilson syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs397515449
|
1.000 |
0.280 |
2 |
144389962 |
missense variant |
T/C
|
snv
|
|
|
Mowat-Wilson syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs398124280
|
1.000 |
0.280 |
2 |
144389732 |
stop gained |
AGTACC/CATTA
|
delins
|
|
|
Mowat-Wilson syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs398124281
|
1.000 |
0.280 |
2 |
144404064 |
frameshift variant |
TAGCCCCGGTCGCAGTA/-
|
del
|
|
|
Mowat-Wilson syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs587776603
|
1.000 |
0.280 |
2 |
144400011 |
frameshift variant |
GTTT/-
|
delins
|
|
|
Mowat-Wilson syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs587776604
|
1.000 |
0.280 |
2 |
144399760 |
frameshift variant |
-/T
|
delins
|
|
|
Mowat-Wilson syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs587776605
|
1.000 |
0.280 |
2 |
144403962 |
frameshift variant |
TG/-;TGTG
|
delins
|
|
|
Mowat-Wilson syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs587776606
|
1.000 |
0.280 |
2 |
144398733 |
frameshift variant |
-/A
|
delins
|
|
|
Mowat-Wilson syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs587776607
|
1.000 |
0.280 |
2 |
144399295 |
frameshift variant |
T/-
|
delins
|
|
|
Mowat-Wilson syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs587776608
|
1.000 |
0.280 |
2 |
144404874 |
frameshift variant |
-/CA
|
ins
|
2.0E-05
|
|
Mowat-Wilson syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs587776609
|
1.000 |
0.280 |
2 |
144389528 |
frameshift variant |
-/GG
|
delins
|
|
|
Mowat-Wilson syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs587776611
|
1.000 |
0.280 |
2 |
144399325 |
frameshift variant |
A/-
|
del
|
|
|
Mowat-Wilson syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs587776612
|
1.000 |
0.280 |
2 |
144517420 |
splice acceptor variant |
C/T
|
snv
|
|
|
Mowat-Wilson syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs587784563
|
1.000 |
0.280 |
2 |
144399231 |
stop gained |
G/A;T
|
snv
|
|
|
Mowat-Wilson syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|