rs121908571
|
1.000 |
|
2 |
218662620 |
missense variant |
G/A
|
snv
|
|
|
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1
|
|
0.800 |
1.000 |
7 |
2001 |
2013 |
rs121908572
|
0.882 |
0.280 |
2 |
218661283 |
missense variant |
C/T
|
snv
|
|
|
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1
|
|
0.700 |
1.000 |
7 |
2001 |
2013 |
rs121908580
|
1.000 |
|
2 |
218661135 |
missense variant |
A/G
|
snv
|
|
|
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1
|
|
0.800 |
1.000 |
7 |
2001 |
2013 |
rs1553597538
|
|
|
2 |
218662571 |
frameshift variant |
CT/-
|
delins
|
|
|
Movement Disorders
|
Nervous System Diseases
|
0.700 |
1.000 |
5 |
2001 |
2009 |
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 |
rs121908579
|
0.925 |
0.200 |
2 |
218661090 |
missense variant |
G/C
|
snv
|
|
|
Pili torti-deafness syndrome
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
2 |
2007 |
2013 |
rs1280810181
|
1.000 |
0.200 |
2 |
218662910 |
missense variant |
G/A
|
snv
|
|
1.4E-05
|
Pili torti-deafness syndrome
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
2 |
2007 |
2013 |
rs1553598145
|
1.000 |
0.240 |
2 |
218663253 |
stop gained |
T/A
|
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
|
0.700 |
1.000 |
2 |
2014 |
2016 |
rs386833858
|
1.000 |
0.240 |
2 |
218662973 |
missense variant |
T/C
|
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
|
0.800 |
1.000 |
2 |
2002 |
2007 |
rs587777278
|
1.000 |
0.200 |
2 |
218662894 |
missense variant |
T/A
|
snv
|
|
|
Pili torti-deafness syndrome
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.800 |
1.000 |
2 |
2007 |
2013 |
rs1057516518
|
1.000 |
0.240 |
2 |
218662963 |
frameshift variant |
-/C
|
delins
|
|
|
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 |
2009 |
2009 |
rs121908572
|
0.882 |
0.280 |
2 |
218661283 |
missense variant |
C/T
|
snv
|
|
|
Mitochondrial Diseases
|
Nutritional and Metabolic Diseases
|
0.010 |
1.000 |
1 |
2013 |
2013 |
rs1057516255
|
1.000 |
0.240 |
2 |
218661904 |
frameshift variant |
-/A
|
delins
|
|
|
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 |
|
|
rs1057516786
|
1.000 |
0.240 |
2 |
218663369 |
frameshift variant |
AG/-
|
delins
|
|
|
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 |
|
|
rs1057516802
|
1.000 |
0.240 |
2 |
218661954 |
splice donor variant |
G/A
|
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
|
0.700 |
|
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 |
|
|
rs1057521059
|
1.000 |
|
2 |
218661470 |
missense variant |
G/A
|
snv
|
|
|
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1
|
|
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 |
|
|
rs121908579
|
0.925 |
0.200 |
2 |
218661090 |
missense variant |
G/C
|
snv
|
|
|
BJORNSTAD SYNDROME WITH MILD MITOCHONDRIAL COMPLEX III DEFICIENCY
|
|
0.700 |
|
0 |
|
|
rs1363475546
|
1.000 |
0.240 |
2 |
218662561 |
frameshift variant |
G/-
|
delins
|
|
|
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 |
|
|
rs1553595997
|
1.000 |
0.240 |
2 |
218661040 |
frameshift variant |
C/-
|
del
|
|
|
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 |
|
|
rs1553596638
|
1.000 |
0.240 |
2 |
218661456 |
frameshift variant |
-/A
|
delins
|
|
|
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 |
|
|
rs1553596761
|
1.000 |
0.240 |
2 |
218661546 |
splice donor variant |
G/A
|
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
|
0.700 |
|
0 |
|
|
rs1553596929
|
1.000 |
0.240 |
2 |
218661770 |
frameshift variant |
G/-
|
del
|
|
|
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 |
|
|
rs1553596996
|
1.000 |
0.240 |
2 |
218661830 |
frameshift variant |
C/-
|
delins
|
|
|
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 |
|
|