rs1003611285
|
1.000 |
0.120 |
19 |
12893590 |
missense variant |
G/A;T
|
snv
|
|
7.0E-06
|
Glutaric aciduria, type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1006150317
|
1.000 |
0.120 |
19 |
12891875 |
stop gained |
G/T
|
snv
|
|
|
Glutaric aciduria, type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1008834111
|
1.000 |
0.120 |
19 |
12896320 |
stop gained |
C/T
|
snv
|
|
|
Glutaric aciduria, type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1057516522
|
1.000 |
0.120 |
19 |
12891383 |
frameshift variant |
CG/-
|
delins
|
|
|
Glutaric aciduria, type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1057516715
|
1.000 |
0.120 |
19 |
12896000 |
stop gained |
G/T
|
snv
|
|
|
Glutaric aciduria, type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1057516855
|
1.000 |
0.120 |
19 |
12893651 |
splice donor variant |
GTGAGTGG/-
|
delins
|
|
|
Glutaric aciduria, type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1057516899
|
1.000 |
0.120 |
19 |
12896231 |
frameshift variant |
TTGT/-
|
delins
|
|
|
Glutaric aciduria, type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1057516939
|
1.000 |
0.120 |
19 |
12891382 |
frameshift variant |
G/-
|
delins
|
|
7.0E-06
|
Glutaric aciduria, type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1057517088
|
1.000 |
0.120 |
19 |
12891901 |
frameshift variant |
C/-
|
del
|
|
7.0E-06
|
Glutaric aciduria, type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1197426645
|
1.000 |
0.120 |
19 |
12891305 |
start lost |
A/C;G
|
snv
|
|
|
Glutaric aciduria, type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1203022386
|
1.000 |
0.120 |
19 |
12896270 |
missense variant |
G/A;C
|
snv
|
|
|
Glutaric aciduria, type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1230368107
|
1.000 |
0.120 |
19 |
12891307 |
start lost |
G/A;C
|
snv
|
|
|
Glutaric aciduria, type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1247712895
|
1.000 |
0.120 |
19 |
12896983 |
missense variant |
T/G
|
snv
|
4.0E-06
|
|
Glutaric aciduria, type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1257292639
|
1.000 |
0.120 |
19 |
12897391 |
missense variant |
G/A
|
snv
|
|
7.0E-06
|
Glutaric aciduria, type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1294124984
|
1.000 |
0.120 |
19 |
12892140 |
missense variant |
A/G
|
snv
|
4.0E-06
|
|
Glutaric aciduria, type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1348974766
|
1.000 |
0.120 |
19 |
12897743 |
missense variant |
T/C
|
snv
|
|
7.0E-06
|
Glutaric aciduria, type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs141456457
|
1.000 |
0.120 |
19 |
12893576 |
missense variant |
T/C
|
snv
|
3.2E-05
|
4.2E-05
|
Glutaric aciduria, type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1555749369
|
1.000 |
0.120 |
19 |
12892114 |
splice acceptor variant |
A/C
|
snv
|
|
|
Glutaric aciduria, type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1555749434
|
1.000 |
0.120 |
19 |
12892172 |
frameshift variant |
TCAA/-
|
delins
|
|
|
Glutaric aciduria, type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1555750535
|
1.000 |
0.120 |
19 |
12896201 |
splice acceptor variant |
CAGGATC/-
|
delins
|
|
|
Glutaric aciduria, type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1555750580
|
1.000 |
0.120 |
19 |
12896294 |
frameshift variant |
-/CGGG
|
delins
|
|
|
Glutaric aciduria, type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1555751109
|
1.000 |
0.120 |
19 |
12897429 |
splice donor variant |
G/T
|
snv
|
|
|
Glutaric aciduria, type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1568427678
|
0.882 |
0.160 |
19 |
12896243 |
missense variant |
G/C
|
snv
|
|
|
Global developmental delay
|
|
0.700 |
|
0 |
|
|
rs1568427678
|
0.882 |
0.160 |
19 |
12896243 |
missense variant |
G/C
|
snv
|
|
|
Glutaric aciduria, type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1568427678
|
0.882 |
0.160 |
19 |
12896243 |
missense variant |
G/C
|
snv
|
|
|
Developmental regression
|
Mental Disorders
|
0.700 |
|
0 |
|
|