rs1187203558
|
1.000 |
0.120 |
5 |
71596286 |
missense variant |
G/T
|
snv
|
|
|
3-methylcrotonyl CoA carboxylase 2 deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs119103219
|
1.000 |
0.120 |
5 |
71599672 |
missense variant |
G/A;C
|
snv
|
3.6E-05
|
1.4E-04
|
3-methylcrotonyl CoA carboxylase 2 deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
|
0 |
|
|
rs119103220
|
1.000 |
0.120 |
5 |
71602586 |
missense variant |
G/A
|
snv
|
|
7.0E-06
|
3-methylcrotonyl CoA carboxylase 2 deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
11 |
2001 |
2016 |
rs119103221
|
1.000 |
0.120 |
5 |
71635176 |
missense variant |
C/G
|
snv
|
4.0E-06
|
|
3-methylcrotonyl CoA carboxylase 2 deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
11 |
2001 |
2016 |
rs119103222
|
1.000 |
0.120 |
5 |
71602621 |
missense variant |
T/C
|
snv
|
4.0E-06
|
7.0E-06
|
3-methylcrotonyl CoA carboxylase 2 deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
11 |
2001 |
2016 |
rs119103223
|
1.000 |
0.120 |
5 |
71632185 |
missense variant |
G/C
|
snv
|
|
|
3-methylcrotonyl CoA carboxylase 2 deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
11 |
2001 |
2016 |
rs119103224
|
1.000 |
0.120 |
5 |
71649189 |
missense variant |
A/G;T
|
snv
|
2.0E-05;
8.0E-06
|
|
3-methylcrotonyl CoA carboxylase 2 deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
11 |
2001 |
2016 |
rs119103225
|
1.000 |
0.120 |
5 |
71604413 |
missense variant |
A/G
|
snv
|
|
|
3-methylcrotonyl CoA carboxylase 2 deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
11 |
2001 |
2016 |
rs119103226
|
1.000 |
0.120 |
5 |
71634977 |
missense variant |
G/T
|
snv
|
5.6E-05
|
7.0E-06
|
3-methylcrotonyl CoA carboxylase 2 deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
13 |
2001 |
2016 |
rs1195601465
|
1.000 |
0.120 |
5 |
71626686 |
missense variant |
C/T
|
snv
|
|
7.0E-06
|
3-methylcrotonyl CoA carboxylase 2 deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1254750166
|
1.000 |
0.120 |
5 |
71626674 |
missense variant |
G/A
|
snv
|
|
|
3-methylcrotonyl CoA carboxylase 2 deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1257849672
|
1.000 |
0.120 |
5 |
71656831 |
missense variant |
A/G
|
snv
|
4.0E-06
|
3.5E-05
|
3-methylcrotonyl CoA carboxylase 2 deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
11 |
2001 |
2016 |
rs139852818
|
1.000 |
0.120 |
5 |
71649202 |
missense variant |
T/A;C
|
snv
|
4.0E-06;
1.0E-03
|
|
3-methylcrotonyl CoA carboxylase 2 deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
11 |
2001 |
2016 |
rs140806722
|
1.000 |
0.120 |
5 |
71604443 |
missense variant |
T/A
|
snv
|
2.1E-03
|
2.6E-03
|
3-methylcrotonyl CoA carboxylase 2 deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
11 |
2001 |
2016 |
rs141030969
|
1.000 |
0.120 |
5 |
71602585 |
missense variant |
C/T
|
snv
|
4.4E-05
|
2.1E-05
|
3-methylcrotonyl CoA carboxylase 2 deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
2 |
2005 |
2012 |
rs142887940
|
1.000 |
0.120 |
5 |
71646269 |
missense variant |
A/C;G
|
snv
|
4.0E-06;
1.1E-04
|
|
3-methylcrotonyl CoA carboxylase 2 deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
11 |
2001 |
2016 |
rs1443551700
|
1.000 |
0.120 |
5 |
71635202 |
missense variant |
G/A
|
snv
|
4.0E-06
|
|
3-methylcrotonyl CoA carboxylase 2 deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
11 |
2001 |
2016 |
rs1450515408
|
1.000 |
0.120 |
5 |
71646220 |
missense variant |
T/G
|
snv
|
|
|
3-methylcrotonyl CoA carboxylase 2 deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
11 |
2001 |
2016 |
rs1459143051
|
1.000 |
0.120 |
5 |
71652747 |
missense variant |
A/G
|
snv
|
|
|
3-methylcrotonyl CoA carboxylase 2 deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
11 |
2001 |
2016 |
rs148773718
|
1.000 |
0.120 |
5 |
71650118 |
missense variant |
G/A
|
snv
|
9.5E-05
|
1.5E-04
|
3-methylcrotonyl CoA carboxylase 2 deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
11 |
2001 |
2016 |
rs150327768
|
1.000 |
0.120 |
5 |
71652739 |
missense variant |
A/C;G;T
|
snv
|
2.0E-05;
8.0E-06;
4.0E-06
|
|
3-methylcrotonyl CoA carboxylase 2 deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
11 |
2001 |
2016 |
rs150591260
|
1.000 |
0.120 |
5 |
71641018 |
missense variant |
G/A;C
|
snv
|
7.8E-04;
4.0E-06
|
5.7E-04
|
3-methylcrotonyl CoA carboxylase 2 deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
13 |
2001 |
2016 |
rs1554134065
|
1.000 |
0.120 |
5 |
71602577 |
missense variant |
A/C
|
snv
|
|
|
3-methylcrotonyl CoA carboxylase 2 deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
11 |
2001 |
2016 |
rs1554137532
|
1.000 |
0.120 |
5 |
71635231 |
frameshift variant |
-/T
|
delins
|
|
|
3-methylcrotonyl CoA carboxylase 2 deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1554138265
|
1.000 |
0.120 |
5 |
71646279 |
splice donor variant |
T/C
|
snv
|
|
|
3-methylcrotonyl CoA carboxylase 2 deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
3 |
2001 |
2016 |