rs118204044
|
0.925 |
0.080 |
2 |
149570089 |
missense variant |
A/G
|
snv
|
2.4E-05
|
|
Methylmalonic Aciduria and Homocystinuria, CblD Type
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
3 |
2008 |
2015 |
rs118204045
|
0.925 |
0.080 |
2 |
149575775 |
missense variant |
G/T
|
snv
|
1.2E-05
|
|
Methylmalonic Aciduria and Homocystinuria, CblD Type
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
3 |
2008 |
2015 |
rs118204046
|
0.925 |
0.080 |
2 |
149570119 |
missense variant |
T/C
|
snv
|
7.2E-05
|
3.5E-05
|
Methylmalonic Aciduria and Homocystinuria, CblD Type
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
3 |
2008 |
2015 |
rs864309740
|
1.000 |
0.080 |
2 |
149582147 |
frameshift variant |
-/C
|
delins
|
|
|
Methylmalonic Aciduria and Homocystinuria, CblD Type
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
1 |
2012 |
2012 |
rs864309741
|
1.000 |
0.080 |
2 |
149579574 |
frameshift variant |
-/C
|
delins
|
|
|
Methylmalonic Aciduria and Homocystinuria, CblD Type
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
1 |
2012 |
2012 |
rs118204044
|
0.925 |
0.080 |
2 |
149570089 |
missense variant |
A/G
|
snv
|
2.4E-05
|
|
Homocystinuria, CblD Type, Variant 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs118204045
|
0.925 |
0.080 |
2 |
149575775 |
missense variant |
G/T
|
snv
|
1.2E-05
|
|
Homocystinuria, CblD Type, Variant 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs118204046
|
0.925 |
0.080 |
2 |
149570119 |
missense variant |
T/C
|
snv
|
7.2E-05
|
3.5E-05
|
Homocystinuria, CblD Type, Variant 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs118204047
|
0.925 |
0.080 |
2 |
149579643 |
stop gained |
G/A;C
|
snv
|
4.0E-06
|
|
Methylmalonic Aciduria, CblD Type, Variant 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs118204047
|
0.925 |
0.080 |
2 |
149579643 |
stop gained |
G/A;C
|
snv
|
4.0E-06
|
|
Methylmalonic Aciduria and Homocystinuria, CblD Type
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs118204048
|
1.000 |
0.080 |
2 |
149570117 |
stop gained |
G/A
|
snv
|
4.0E-06
|
|
Methylmalonic Aciduria and Homocystinuria, CblD Type
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1553454436
|
1.000 |
0.080 |
2 |
149582256 |
frameshift variant |
CT/-
|
delins
|
|
|
Vomiting
|
Pathological Conditions, Signs and Symptoms
|
0.700 |
|
0 |
|
|
rs1553454436
|
1.000 |
0.080 |
2 |
149582256 |
frameshift variant |
CT/-
|
delins
|
|
|
Hematemesis
|
Pathological Conditions, Signs and Symptoms; Digestive System Diseases
|
0.700 |
|
0 |
|
|
rs1553454436
|
1.000 |
0.080 |
2 |
149582256 |
frameshift variant |
CT/-
|
delins
|
|
|
Methylmalonic Aciduria and Homocystinuria, CblD Type
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs397509361
|
0.925 |
0.080 |
2 |
149582217 |
frameshift variant |
TAAAGAGC/-
|
delins
|
|
|
Methylmalonic Aciduria, CblD Type, Variant 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs397509361
|
0.925 |
0.080 |
2 |
149582217 |
frameshift variant |
TAAAGAGC/-
|
delins
|
|
|
Methylmalonic Aciduria and Homocystinuria, CblD Type
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs397509362
|
0.925 |
0.080 |
2 |
149579478 |
inframe insertion |
-/TGATAAAGGTTCTGCTAG
|
delins
|
|
|
Methylmalonic Aciduria and Homocystinuria, CblD Type
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs397509362
|
0.925 |
0.080 |
2 |
149579478 |
inframe insertion |
-/TGATAAAGGTTCTGCTAG
|
delins
|
|
|
Methylmalonic Aciduria, CblD Type, Variant 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs397509363
|
1.000 |
0.080 |
2 |
149576495 |
stop gained |
-/T
|
delins
|
|
2.1E-05
|
Methylmalonic Aciduria and Homocystinuria, CblD Type
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs397509364
|
1.000 |
0.080 |
2 |
149571079 |
splice donor variant |
CACT/-
|
delins
|
|
|
Methylmalonic Aciduria and Homocystinuria, CblD Type
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs864309742
|
1.000 |
0.080 |
2 |
149582220 |
frameshift variant |
-/TA
|
delins
|
|
|
Methylmalonic Aciduria and Homocystinuria, CblD Type
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs864309743
|
1.000 |
0.080 |
2 |
149576459 |
frameshift variant |
-/G
|
delins
|
|
|
Methylmalonic Aciduria and Homocystinuria, CblD Type
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|