rs886037664
|
1.000 |
0.120 |
22 |
41117194 |
frameshift variant |
CTCT/-
|
delins
|
|
|
RUBINSTEIN-TAYBI SYNDROME 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
2 |
2014 |
2016 |
rs1057519375
|
1.000 |
0.120 |
22 |
41178931 |
frameshift variant |
CA/-
|
delins
|
|
|
RUBINSTEIN-TAYBI SYNDROME 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2015 |
2015 |
rs1114167305
|
1.000 |
0.120 |
22 |
41162784 |
splice region variant |
G/C
|
snv
|
|
|
RUBINSTEIN-TAYBI SYNDROME 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2015 |
2015 |
rs1114167306
|
1.000 |
0.120 |
22 |
41172557 |
missense variant |
T/G
|
snv
|
|
|
RUBINSTEIN-TAYBI SYNDROME 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2015 |
2015 |
rs1210404526
|
0.925 |
0.120 |
22 |
41177712 |
missense variant |
C/G;T
|
snv
|
4.0E-06
|
|
RUBINSTEIN-TAYBI SYNDROME 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2018 |
2018 |
rs139310551
|
1.000 |
0.120 |
22 |
41176400 |
stop gained |
C/A;T
|
snv
|
|
|
RUBINSTEIN-TAYBI SYNDROME 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2015 |
2015 |
rs1555912040
|
1.000 |
0.120 |
22 |
41176420 |
frameshift variant |
-/ATGT
|
delins
|
|
|
RUBINSTEIN-TAYBI SYNDROME 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2015 |
2015 |
rs1569118537
|
0.925 |
0.200 |
22 |
41172631 |
stop gained |
C/T
|
snv
|
|
|
RUBINSTEIN-TAYBI SYNDROME 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs565779970
|
0.925 |
0.120 |
22 |
41158483 |
stop gained |
T/A;C
|
snv
|
3.2E-05
|
|
RUBINSTEIN-TAYBI SYNDROME 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2005 |
2005 |
rs587778256
|
1.000 |
0.120 |
22 |
41178337 |
inframe deletion |
CCAGTTCCAGCA/-
|
delins
|
1.6E-03
|
1.7E-03
|
RUBINSTEIN-TAYBI SYNDROME 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2015 |
2015 |
rs886041830
|
1.000 |
0.120 |
22 |
41155015 |
stop gained |
C/T
|
snv
|
|
|
RUBINSTEIN-TAYBI SYNDROME 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2015 |
2015 |
rs1057517732
|
1.000 |
0.120 |
22 |
41176250 |
missense variant |
T/G
|
snv
|
|
|
RUBINSTEIN-TAYBI SYNDROME 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1057521737
|
0.827 |
0.240 |
22 |
41173768 |
missense variant |
T/C
|
snv
|
|
|
RUBINSTEIN-TAYBI SYNDROME 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs137853039
|
1.000 |
0.120 |
22 |
41141111 |
stop gained |
C/T
|
snv
|
|
|
RUBINSTEIN-TAYBI SYNDROME 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1555902247
|
1.000 |
0.120 |
22 |
41093071 |
frameshift variant |
TC/-
|
delins
|
|
|
RUBINSTEIN-TAYBI SYNDROME 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1555909666
|
0.925 |
0.200 |
22 |
41151998 |
stop gained |
G/T
|
snv
|
|
|
RUBINSTEIN-TAYBI SYNDROME 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1555909697
|
1.000 |
0.120 |
22 |
41152277 |
frameshift variant |
AAAGA/-
|
delins
|
|
|
RUBINSTEIN-TAYBI SYNDROME 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1555910482
|
1.000 |
0.120 |
22 |
41162733 |
frameshift variant |
AGAA/-
|
delins
|
|
|
RUBINSTEIN-TAYBI SYNDROME 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1555910602
|
1.000 |
0.120 |
22 |
41164055 |
inframe deletion |
TTG/-
|
delins
|
|
|
RUBINSTEIN-TAYBI SYNDROME 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1555910821
|
1.000 |
0.120 |
22 |
41166649 |
missense variant |
A/G
|
snv
|
|
|
RUBINSTEIN-TAYBI SYNDROME 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1555911316
|
1.000 |
0.120 |
22 |
41170490 |
inframe deletion |
ACCCAA/-
|
del
|
|
|
RUBINSTEIN-TAYBI SYNDROME 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1555911334
|
1.000 |
0.120 |
22 |
41170576 |
splice region variant |
G/T
|
snv
|
|
|
RUBINSTEIN-TAYBI SYNDROME 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1555912238
|
1.000 |
0.120 |
22 |
41177907 |
stop gained |
C/T
|
snv
|
|
|
RUBINSTEIN-TAYBI SYNDROME 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1569090642
|
1.000 |
0.120 |
22 |
41117728 |
frameshift variant |
G/-
|
delins
|
|
|
RUBINSTEIN-TAYBI SYNDROME 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1569108381
|
1.000 |
0.120 |
22 |
41151890 |
frameshift variant |
CACAGAAG/-
|
delins
|
|
|
RUBINSTEIN-TAYBI SYNDROME 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|