rs397515481
|
1.000 |
0.280 |
8 |
38428048 |
missense variant |
A/G
|
snv
|
|
|
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms
|
0.800 |
1.000 |
2 |
2013 |
2014 |
rs398122945
|
1.000 |
0.280 |
8 |
38414164 |
missense variant |
C/T
|
snv
|
|
|
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms
|
0.800 |
1.000 |
2 |
2013 |
2014 |
rs398122946
|
1.000 |
0.280 |
8 |
38414889 |
missense variant |
C/A
|
snv
|
|
|
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms
|
0.800 |
1.000 |
2 |
2013 |
2014 |
rs869025669
|
1.000 |
0.280 |
8 |
38427970 |
missense variant |
A/G
|
snv
|
|
|
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms
|
0.800 |
1.000 |
2 |
2013 |
2014 |
rs869025670
|
1.000 |
0.280 |
8 |
38417954 |
missense variant |
C/G;T
|
snv
|
|
|
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms
|
0.800 |
1.000 |
2 |
2013 |
2014 |
rs869025671
|
1.000 |
0.280 |
8 |
38414876 |
missense variant |
C/G
|
snv
|
|
|
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms
|
0.800 |
1.000 |
2 |
2013 |
2014 |
rs869025672
|
0.925 |
0.320 |
8 |
38414872 |
missense variant |
A/C;G
|
snv
|
8.0E-06
|
|
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms
|
0.800 |
1.000 |
2 |
2013 |
2014 |
rs121909641
|
0.763 |
0.520 |
8 |
38419720 |
missense variant |
G/A
|
snv
|
|
|
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs1554548253
|
1.000 |
0.280 |
8 |
38414835 |
missense variant |
C/T
|
snv
|
|
|
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs1554551657
|
1.000 |
0.280 |
8 |
38417363 |
inframe deletion |
ATC/-
|
delins
|
|
|
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs1554551667
|
1.000 |
0.280 |
8 |
38417365 |
missense variant |
A/T
|
snv
|
|
|
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs1563433902
|
1.000 |
0.280 |
8 |
38414611 |
missense variant |
A/G
|
snv
|
|
|
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs1563436265
|
1.000 |
0.280 |
8 |
38414875 |
missense variant |
C/G
|
snv
|
|
|
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs515726224
|
0.925 |
0.320 |
8 |
38417962 |
missense variant |
C/T
|
snv
|
|
|
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs780009859
|
1.000 |
0.280 |
8 |
38414887 |
missense variant |
G/A;C
|
snv
|
3.2E-05
|
1.4E-05
|
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs876661332
|
1.000 |
0.280 |
8 |
38417968 |
missense variant |
C/A
|
snv
|
|
|
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs1444167285
|
1.000 |
0.280 |
8 |
38413994 |
missense variant |
G/A
|
snv
|
|
1.4E-05
|
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms
|
0.010 |
1.000 |
1 |
2019 |
2019 |