rs121908094
|
0.925 |
0.160 |
1 |
40258392 |
stop gained |
C/T
|
snv
|
8.0E-06
|
|
Atrophic condition of skin
|
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
|
0.010 |
1.000 |
1 |
2008 |
2008 |
rs121908094
|
0.925 |
0.160 |
1 |
40258392 |
stop gained |
C/T
|
snv
|
8.0E-06
|
|
Mandibuloacral dysostosis
|
Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.010 |
1.000 |
1 |
2008 |
2008 |
rs121908094
|
0.925 |
0.160 |
1 |
40258392 |
stop gained |
C/T
|
snv
|
8.0E-06
|
|
MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs267607181
|
1.000 |
0.120 |
1 |
40271981 |
stop gained |
G/A;T
|
snv
|
1.2E-05;
4.0E-06
|
|
Lethal tight skin contracture syndrome (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs281875376
|
1.000 |
0.160 |
1 |
40292590 |
stop gained |
G/A
|
snv
|
4.0E-06;
4.0E-06
|
|
MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs121908093
|
0.882 |
0.160 |
1 |
40285988 |
missense variant |
T/C
|
snv
|
|
|
MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.800 |
1.000 |
4 |
2003 |
2010 |
rs121908095
|
0.925 |
0.160 |
1 |
40272009 |
missense variant |
C/G;T
|
snv
|
2.0E-05
|
|
MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.800 |
1.000 |
4 |
2003 |
2010 |
rs281875371
|
0.925 |
0.160 |
1 |
40281367 |
missense variant |
A/G
|
snv
|
1.2E-05
|
2.8E-05
|
MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
4 |
2003 |
2010 |
rs121908093
|
0.882 |
0.160 |
1 |
40285988 |
missense variant |
T/C
|
snv
|
|
|
Familial generalized lipodystrophy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.010 |
1.000 |
1 |
2003 |
2003 |
rs121908093
|
0.882 |
0.160 |
1 |
40285988 |
missense variant |
T/C
|
snv
|
|
|
Generalized Lipodystrophy
|
Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.010 |
1.000 |
1 |
2003 |
2003 |
rs121908095
|
0.925 |
0.160 |
1 |
40272009 |
missense variant |
C/G;T
|
snv
|
2.0E-05
|
|
Atrophic condition of skin
|
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
|
0.010 |
1.000 |
1 |
2008 |
2008 |
rs121908095
|
0.925 |
0.160 |
1 |
40272009 |
missense variant |
C/G;T
|
snv
|
2.0E-05
|
|
Mandibuloacral dysostosis
|
Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.010 |
1.000 |
1 |
2008 |
2008 |
rs281875371
|
0.925 |
0.160 |
1 |
40281367 |
missense variant |
A/G
|
snv
|
1.2E-05
|
2.8E-05
|
Mandibuloacral dysostosis
|
Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.010 |
1.000 |
1 |
2006 |
2006 |
rs137854889
|
0.742 |
0.440 |
1 |
40290871 |
frameshift variant |
T/-;TT
|
delins
|
|
|
Congenital microcephaly
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs137854889
|
0.742 |
0.440 |
1 |
40290871 |
frameshift variant |
T/-;TT
|
delins
|
|
|
Flexion contracture of proximal interphalangeal joint
|
|
0.700 |
|
0 |
|
|
rs137854889
|
0.742 |
0.440 |
1 |
40290871 |
frameshift variant |
T/-;TT
|
delins
|
|
|
Downward slant of palpebral fissure
|
|
0.700 |
|
0 |
|
|
rs137854889
|
0.742 |
0.440 |
1 |
40290871 |
frameshift variant |
T/-;TT
|
delins
|
|
|
Reduced fetal movement
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications
|
0.700 |
|
0 |
|
|
rs137854889
|
0.742 |
0.440 |
1 |
40290871 |
frameshift variant |
T/-;TT
|
delins
|
|
|
Blepharophimosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
0.700 |
|
0 |
|
|
rs137854889
|
0.742 |
0.440 |
1 |
40290871 |
frameshift variant |
T/-;TT
|
delins
|
|
|
Dermal translucency
|
|
0.700 |
|
0 |
|
|
rs137854889
|
0.742 |
0.440 |
1 |
40290871 |
frameshift variant |
T/-;TT
|
delins
|
|
|
Poor suck
|
|
0.700 |
|
0 |
|
|
rs137854889
|
0.742 |
0.440 |
1 |
40290871 |
frameshift variant |
T/-;TT
|
delins
|
|
|
Birth length less than 3rd percentile
|
|
0.700 |
|
0 |
|
|
rs137854889
|
0.742 |
0.440 |
1 |
40290871 |
frameshift variant |
T/-;TT
|
delins
|
|
|
hearing impairment
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs137854889
|
0.742 |
0.440 |
1 |
40290871 |
frameshift variant |
T/-;TT
|
delins
|
|
|
Pre-Eclampsia
|
Female Urogenital Diseases and Pregnancy Complications
|
0.700 |
|
0 |
|
|
rs137854889
|
0.742 |
0.440 |
1 |
40290871 |
frameshift variant |
T/-;TT
|
delins
|
|
|
Proportionate short stature
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs137854889
|
0.742 |
0.440 |
1 |
40290871 |
frameshift variant |
T/-;TT
|
delins
|
|
|
Narrow nail
|
|
0.700 |
|
0 |
|
|