rs1057516535
|
1.000 |
0.160 |
7 |
107696030 |
splice donor variant |
TCAGTTGTGAGT/-
|
delins
|
|
|
Pendred's syndrome
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs1057516634
|
1.000 |
0.160 |
7 |
107661696 |
frameshift variant |
A/-
|
del
|
|
2.1E-05
|
Pendred's syndrome
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs1057516636
|
1.000 |
0.160 |
7 |
107701988 |
frameshift variant |
C/-
|
delins
|
|
|
Pendred's syndrome
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs1057516678
|
1.000 |
0.160 |
7 |
107674963 |
stop gained |
C/T
|
snv
|
4.0E-06
|
|
Pendred's syndrome
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs1057516717
|
1.000 |
0.160 |
7 |
107695931 |
splice acceptor variant |
A/G
|
snv
|
|
|
Pendred's syndrome
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs1057516796
|
1.000 |
0.160 |
7 |
107704363 |
frameshift variant |
T/-
|
del
|
|
|
Pendred's syndrome
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs1057516953
|
0.925 |
0.160 |
7 |
107663412 |
missense variant |
C/T
|
snv
|
4.0E-06
|
|
hearing impairment
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs1057516953
|
0.925 |
0.160 |
7 |
107663412 |
missense variant |
C/T
|
snv
|
4.0E-06
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs1057517246
|
1.000 |
0.160 |
7 |
107683290 |
frameshift variant |
GGAATTAA/-
|
delins
|
|
|
Pendred's syndrome
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs1057517298
|
1.000 |
0.160 |
7 |
107694620 |
splice acceptor variant |
G/T
|
snv
|
|
|
Pendred's syndrome
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs1057517303
|
0.925 |
0.160 |
7 |
107710192 |
stop gained |
T/A;C
|
snv
|
|
|
hearing impairment
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs1057517303
|
0.925 |
0.160 |
7 |
107710192 |
stop gained |
T/A;C
|
snv
|
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs1057518810
|
|
|
7 |
107663430 |
missense variant |
T/C
|
snv
|
|
1.4E-05
|
hearing impairment
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs1060499807
|
1.000 |
0.160 |
7 |
107689200 |
splice donor variant |
G/-
|
delins
|
|
|
Pendred's syndrome
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs1060499808
|
0.925 |
0.160 |
7 |
107704344 |
missense variant |
T/C
|
snv
|
8.9E-06
|
|
Pendred's syndrome
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs111033199
|
0.882 |
0.160 |
7 |
107672245 |
missense variant |
G/A;C;T
|
snv
|
1.8E-04;
4.0E-06
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs111033205
|
0.882 |
0.240 |
7 |
107661726 |
stop gained |
G/C;T
|
snv
|
9.3E-05;
6.2E-06
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs111033205
|
0.882 |
0.240 |
7 |
107661726 |
stop gained |
G/C;T
|
snv
|
9.3E-05;
6.2E-06
|
|
Wolff-Parkinson-White Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs111033205
|
0.882 |
0.240 |
7 |
107661726 |
stop gained |
G/C;T
|
snv
|
9.3E-05;
6.2E-06
|
|
Hearing Loss
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs111033212
|
0.851 |
0.240 |
7 |
107689054 |
missense variant |
T/A;C
|
snv
|
4.0E-06;
8.6E-04
|
|
Global developmental delay
|
|
0.700 |
|
0 |
|
|
rs111033212
|
0.851 |
0.240 |
7 |
107689054 |
missense variant |
T/A;C
|
snv
|
4.0E-06;
8.6E-04
|
|
Pediatric failure to thrive
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Mental Disorders
|
0.700 |
|
0 |
|
|
rs111033220
|
0.925 |
0.160 |
7 |
107690203 |
missense variant |
C/G;T
|
snv
|
4.0E-06;
1.8E-04
|
|
hearing impairment
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs111033220
|
0.925 |
0.160 |
7 |
107690203 |
missense variant |
C/G;T
|
snv
|
4.0E-06;
1.8E-04
|
|
Hearing Loss
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs111033241
|
1.000 |
0.160 |
7 |
107663423 |
frameshift variant |
CACGC/-
|
delins
|
|
|
Pendred's syndrome
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs111033242
|
0.925 |
0.160 |
7 |
107675050 |
missense variant |
C/G
|
snv
|
4.8E-05
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|