rs28937590
|
0.807 |
0.360 |
2 |
218661219 |
missense variant |
A/G
|
snv
|
4.7E-04
|
4.1E-04
|
GRACILE SYNDROME (disorder)
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.820 |
1.000 |
2 |
2002 |
2015 |
rs121908575
|
1.000 |
|
2 |
218661120 |
missense variant |
C/G;T
|
snv
|
8.0E-06;
1.2E-05
|
|
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1
|
|
0.800 |
1.000 |
0 |
2001 |
2013 |
rs121908580
|
1.000 |
|
2 |
218661135 |
missense variant |
A/G
|
snv
|
|
|
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1
|
|
0.800 |
1.000 |
0 |
2001 |
2013 |
rs386833857
|
1.000 |
0.240 |
2 |
218661516 |
missense variant |
G/A
|
snv
|
4.0E-06
|
1.4E-05
|
GRACILE SYNDROME (disorder)
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.800 |
1.000 |
0 |
2002 |
2007 |
rs121908572
|
0.882 |
0.280 |
2 |
218661283 |
missense variant |
C/T
|
snv
|
|
|
GRACILE SYNDROME (disorder)
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.710 |
1.000 |
4 |
2001 |
2014 |
rs377025174
|
|
|
2 |
218661192 |
missense variant |
C/A;T
|
snv
|
4.0E-06;
6.8E-05
|
|
Movement Disorders
|
Nervous System Diseases
|
0.700 |
1.000 |
5 |
2001 |
2009 |
rs121908576
|
0.851 |
0.360 |
2 |
218661153 |
stop gained |
C/T
|
snv
|
1.7E-04
|
2.9E-04
|
GRACILE SYNDROME (disorder)
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
1.000 |
4 |
2002 |
2012 |
rs28937590
|
0.807 |
0.360 |
2 |
218661219 |
missense variant |
A/G
|
snv
|
4.7E-04
|
4.1E-04
|
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1
|
|
0.700 |
1.000 |
2 |
2002 |
2011 |
rs1447313633
|
1.000 |
|
2 |
218649090 |
frameshift variant |
TT/-
|
del
|
|
|
Poor school performance
|
|
0.700 |
1.000 |
1 |
2019 |
2019 |
rs1447313633
|
1.000 |
|
2 |
218649090 |
frameshift variant |
TT/-
|
del
|
|
|
Global developmental delay
|
|
0.700 |
1.000 |
1 |
2019 |
2019 |
rs1447313633
|
1.000 |
|
2 |
218649090 |
frameshift variant |
TT/-
|
del
|
|
|
Dystonia
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2019 |
2019 |
rs1447313633
|
1.000 |
|
2 |
218649090 |
frameshift variant |
TT/-
|
del
|
|
|
Delayed speech and language development
|
Behavior and Behavior Mechanisms
|
0.700 |
1.000 |
1 |
2019 |
2019 |
rs1559296368
|
1.000 |
|
2 |
218646330 |
frameshift variant |
C/-
|
del
|
|
|
Dystonia
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2019 |
2019 |
rs1559296368
|
1.000 |
|
2 |
218646330 |
frameshift variant |
C/-
|
del
|
|
|
Delayed speech and language development
|
Behavior and Behavior Mechanisms
|
0.700 |
1.000 |
1 |
2019 |
2019 |
rs1559296368
|
1.000 |
|
2 |
218646330 |
frameshift variant |
C/-
|
del
|
|
|
Global developmental delay
|
|
0.700 |
1.000 |
1 |
2019 |
2019 |
rs1559296368
|
1.000 |
|
2 |
218646330 |
frameshift variant |
C/-
|
del
|
|
|
Poor school performance
|
|
0.700 |
1.000 |
1 |
2019 |
2019 |
rs386833856
|
1.000 |
0.240 |
2 |
218661308 |
splice donor variant |
G/C;T
|
snv
|
4.0E-06;
1.2E-05
|
|
GRACILE SYNDROME (disorder)
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
1.000 |
1 |
2002 |
2002 |
rs546151500
|
0.925 |
0.080 |
2 |
218643341 |
stop gained |
G/A;T
|
snv
|
8.0E-06;
4.0E-06
|
|
Global developmental delay
|
|
0.700 |
1.000 |
1 |
2019 |
2019 |
rs546151500
|
0.925 |
0.080 |
2 |
218643341 |
stop gained |
G/A;T
|
snv
|
8.0E-06;
4.0E-06
|
|
Dystonia
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2019 |
2019 |
rs546151500
|
0.925 |
0.080 |
2 |
218643341 |
stop gained |
G/A;T
|
snv
|
8.0E-06;
4.0E-06
|
|
Delayed speech and language development
|
Behavior and Behavior Mechanisms
|
0.700 |
1.000 |
1 |
2019 |
2019 |
rs546151500
|
0.925 |
0.080 |
2 |
218643341 |
stop gained |
G/A;T
|
snv
|
8.0E-06;
4.0E-06
|
|
Tonic - clonic seizures
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2019 |
2019 |
rs546151500
|
0.925 |
0.080 |
2 |
218643341 |
stop gained |
G/A;T
|
snv
|
8.0E-06;
4.0E-06
|
|
Poor school performance
|
|
0.700 |
1.000 |
1 |
2019 |
2019 |
rs1057516954
|
1.000 |
0.240 |
2 |
218661547 |
splice donor variant |
T/C
|
snv
|
4.0E-06
|
|
GRACILE SYNDROME (disorder)
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs1057517412
|
1.000 |
0.240 |
2 |
218661501 |
frameshift variant |
C/-
|
delins
|
|
7.0E-06
|
GRACILE SYNDROME (disorder)
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs121908572
|
0.882 |
0.280 |
2 |
218661283 |
missense variant |
C/T
|
snv
|
|
|
Leigh Syndrome due to Mitochondrial Complex III Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|