rs28940289
|
1.000 |
0.200 |
19 |
43511455 |
missense variant |
G/A;C
|
snv
|
2.4E-05
|
3.5E-05
|
Ethylmalonic encephalopathy
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases
|
0.810 |
1.000 |
5 |
2004 |
2014 |
rs1284200516
|
1.000 |
0.200 |
19 |
43511536 |
missense variant |
T/C
|
snv
|
4.0E-06
|
|
Ethylmalonic encephalopathy
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases
|
0.800 |
1.000 |
5 |
2004 |
2012 |
rs1555765564
|
1.000 |
0.200 |
19 |
43526628 |
splice donor variant |
T/C
|
snv
|
|
|
Ethylmalonic encephalopathy
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases
|
0.800 |
1.000 |
3 |
2004 |
2012 |
rs387906987
|
1.000 |
0.200 |
19 |
43508816 |
missense variant |
A/C
|
snv
|
1.2E-05
|
1.4E-05
|
Ethylmalonic encephalopathy
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases
|
0.800 |
1.000 |
3 |
2004 |
2012 |
rs763799125
|
1.000 |
0.200 |
19 |
43508784 |
missense variant |
C/G;T
|
snv
|
2.6E-05
|
|
Ethylmalonic encephalopathy
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases
|
0.800 |
1.000 |
3 |
2004 |
2012 |
rs745656120
|
1.000 |
0.200 |
19 |
43511454 |
missense variant |
C/T
|
snv
|
5.2E-05
|
2.1E-05
|
Ethylmalonic encephalopathy
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
6 |
2004 |
2016 |
rs761827730
|
1.000 |
0.200 |
19 |
43526609 |
frameshift variant |
CT/-
|
delins
|
1.2E-05
|
7.0E-06
|
Ethylmalonic encephalopathy
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
5 |
2004 |
2018 |
rs1555765524
|
1.000 |
0.200 |
19 |
43526514 |
splice donor variant |
C/A
|
snv
|
|
|
Ethylmalonic encephalopathy
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
2 |
2004 |
2009 |
rs761661864
|
1.000 |
0.200 |
19 |
43508773 |
splice donor variant |
A/C
|
snv
|
4.4E-06
|
1.4E-05
|
Ethylmalonic encephalopathy
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
2 |
2004 |
2009 |
rs935855792
|
0.925 |
0.240 |
19 |
43511436 |
splice donor variant |
C/A;G;T
|
snv
|
8.0E-06
|
|
Ethylmalonic encephalopathy
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
2 |
2004 |
2008 |
rs119103249
|
1.000 |
0.200 |
19 |
43527175 |
start lost |
C/A;T
|
snv
|
7.5E-06
|
|
Ethylmalonic encephalopathy
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs1211555765
|
1.000 |
0.200 |
19 |
43527256 |
intron variant |
CGGGG/-;CGGGGCGGGG
|
delins
|
|
|
Ethylmalonic encephalopathy
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs1268640442
|
1.000 |
0.200 |
19 |
43511451 |
missense variant |
G/C;T
|
snv
|
|
|
Ethylmalonic encephalopathy
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs1317633085
|
1.000 |
0.200 |
19 |
43511487 |
missense variant |
G/A
|
snv
|
4.0E-06
|
|
Ethylmalonic encephalopathy
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs1555761934
|
1.000 |
0.200 |
19 |
43508051 |
frameshift variant |
-/C
|
delins
|
|
|
Ethylmalonic encephalopathy
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs1555762070
|
1.000 |
0.200 |
19 |
43508777 |
frameshift variant |
-/G
|
delins
|
|
|
Ethylmalonic encephalopathy
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs1555762722
|
1.000 |
0.200 |
19 |
43511460 |
missense variant |
C/T
|
snv
|
|
|
Ethylmalonic encephalopathy
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs1555762753
|
1.000 |
0.200 |
19 |
43511492 |
frameshift variant |
CCATGCTGTGG/-
|
delins
|
|
|
Ethylmalonic encephalopathy
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs1555765481
|
1.000 |
0.200 |
19 |
43526346 |
frameshift variant |
T/-
|
delins
|
|
|
Ethylmalonic encephalopathy
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs1555765528
|
1.000 |
0.200 |
19 |
43526518 |
frameshift variant |
-/T
|
ins
|
|
|
Ethylmalonic encephalopathy
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs1555765689
|
1.000 |
0.200 |
19 |
43527112 |
frameshift variant |
G/-
|
delins
|
|
|
Ethylmalonic encephalopathy
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs1555765701
|
1.000 |
0.200 |
19 |
43527144 |
stop gained |
G/A
|
snv
|
|
|
Ethylmalonic encephalopathy
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs182983506
|
1.000 |
0.200 |
19 |
43526577 |
missense variant |
A/G
|
snv
|
|
|
Ethylmalonic encephalopathy
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs368778231
|
1.000 |
0.200 |
19 |
43526554 |
stop gained |
G/A
|
snv
|
1.6E-05
|
7.0E-06
|
Ethylmalonic encephalopathy
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs749803238
|
1.000 |
0.200 |
19 |
43527099 |
stop gained |
G/A;T
|
snv
|
1.3E-05;
6.5E-06
|
|
Ethylmalonic encephalopathy
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|