rs121909627
|
0.776 |
0.200 |
8 |
38424690 |
missense variant |
G/C
|
snv
|
4.0E-06
|
|
Pfeiffer Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.850 |
1.000 |
11 |
1994 |
2014 |
rs779707422
|
0.763 |
0.280 |
8 |
38417331 |
missense variant |
G/A;T
|
snv
|
4.0E-06
|
|
Encephalocraniocutaneous lipomatosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases
|
0.820 |
1.000 |
2 |
2016 |
2019 |
rs869320694
|
0.742 |
0.520 |
8 |
38414790 |
missense variant |
T/C
|
snv
|
|
|
Encephalocraniocutaneous lipomatosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases
|
0.810 |
1.000 |
3 |
2009 |
2018 |
rs1554570706
|
0.925 |
0.200 |
8 |
38429808 |
missense variant |
G/A
|
snv
|
|
|
Kallmann Syndrome 2 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
0.800 |
1.000 |
16 |
2003 |
2017 |
rs121909628
|
0.925 |
0.160 |
8 |
38414892 |
stop gained |
G/A;C
|
snv
|
|
|
Kallmann Syndrome 2 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
0.800 |
1.000 |
15 |
2003 |
2015 |
rs121909635
|
0.827 |
0.240 |
8 |
38426158 |
missense variant |
C/T
|
snv
|
|
|
Kallmann Syndrome 2 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
0.800 |
1.000 |
15 |
2003 |
2015 |
rs121909637
|
0.882 |
0.240 |
8 |
38418249 |
missense variant |
C/A;T
|
snv
|
1.2E-05;
2.0E-05
|
|
Kallmann Syndrome 2 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
0.800 |
1.000 |
15 |
2003 |
2015 |
rs121909640
|
0.925 |
0.160 |
8 |
38429898 |
missense variant |
C/T
|
snv
|
|
|
Kallmann Syndrome 2 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
0.800 |
1.000 |
15 |
2003 |
2015 |
rs121909641
|
0.763 |
0.520 |
8 |
38419720 |
missense variant |
G/A
|
snv
|
|
|
Kallmann Syndrome 2 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
0.800 |
1.000 |
15 |
2003 |
2015 |
rs121909644
|
0.925 |
0.160 |
8 |
38413795 |
missense variant |
C/A;T
|
snv
|
|
|
Kallmann Syndrome 2 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
0.800 |
1.000 |
15 |
2003 |
2015 |
rs121909645
|
0.925 |
0.240 |
8 |
38424696 |
missense variant |
C/G;T
|
snv
|
|
|
Kallmann Syndrome 2 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
0.800 |
1.000 |
15 |
2003 |
2015 |
rs121909631
|
0.827 |
0.280 |
8 |
38419696 |
missense variant |
T/C
|
snv
|
|
|
Osteoglophonic dwarfism
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.800 |
1.000 |
2 |
2005 |
2006 |
rs121909632
|
1.000 |
0.080 |
8 |
38421889 |
missense variant |
T/A;C
|
snv
|
4.0E-06
|
|
Osteoglophonic dwarfism
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.800 |
1.000 |
2 |
2005 |
2006 |
rs121909634
|
1.000 |
0.080 |
8 |
38419676 |
missense variant |
A/G
|
snv
|
|
|
Osteoglophonic dwarfism
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.800 |
1.000 |
2 |
2005 |
2006 |
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 |
rs121909627
|
0.776 |
0.200 |
8 |
38424690 |
missense variant |
G/C
|
snv
|
4.0E-06
|
|
JACKSON-WEISS SYNDROME
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.800 |
1.000 |
1 |
2000 |
2000 |
rs121909629
|
0.882 |
0.200 |
8 |
38415905 |
missense variant |
C/T
|
snv
|
|
|
Kallmann Syndrome 2 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
0.700 |
1.000 |
15 |
2003 |
2015 |
rs121909630
|
0.925 |
0.160 |
8 |
38428043 |
missense variant |
C/A
|
snv
|
|
|
Kallmann Syndrome 2 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
0.700 |
1.000 |
15 |
2003 |
2015 |
rs121909638
|
0.882 |
0.280 |
8 |
38421853 |
missense variant |
A/G
|
snv
|
|
|
Kallmann Syndrome 2 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
0.700 |
1.000 |
15 |
2003 |
2015 |