MCCC2, methylcrotonoyl-CoA carboxylase 2, 64087

N. diseases: 50; N. variants: 50
Disease: 3-methylcrotonyl CoA carboxylase 2 deficiency ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs119103220
rs119103220 		1.000 0.120 5 71602586 missense variant G/A snv 7.0E-06
CUI: C1859499
Disease: 3-methylcrotonyl CoA carboxylase 2 deficiency
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
dbSNP: rs119103223
rs119103223 		1.000 0.120 5 71632185 missense variant G/C snv
CUI: C1859499
Disease: 3-methylcrotonyl CoA carboxylase 2 deficiency
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
dbSNP: rs119103225
rs119103225 		1.000 0.120 5 71604413 missense variant A/G snv
CUI: C1859499
Disease: 3-methylcrotonyl CoA carboxylase 2 deficiency
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
dbSNP: rs1450515408
rs1450515408 		1.000 0.120 5 71646220 missense variant T/G snv
CUI: C1859499
Disease: 3-methylcrotonyl CoA carboxylase 2 deficiency
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
dbSNP: rs1459143051
rs1459143051 		1.000 0.120 5 71652747 missense variant A/G snv
CUI: C1859499
Disease: 3-methylcrotonyl CoA carboxylase 2 deficiency
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
dbSNP: rs1554134065
rs1554134065 		1.000 0.120 5 71602577 missense variant A/C snv
CUI: C1859499
Disease: 3-methylcrotonyl CoA carboxylase 2 deficiency
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
dbSNP: rs769558016
rs769558016 		1.000 0.120 5 71650125 missense variant A/G snv 7.0E-06
CUI: C1859499
Disease: 3-methylcrotonyl CoA carboxylase 2 deficiency
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
dbSNP: rs771440617
rs771440617 		1.000 0.120 5 71649109 missense variant G/A;C snv
CUI: C1859499
Disease: 3-methylcrotonyl CoA carboxylase 2 deficiency
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
dbSNP: rs1554138265
rs1554138265 		1.000 0.120 5 71646279 splice donor variant T/C snv
CUI: C1859499
Disease: 3-methylcrotonyl CoA carboxylase 2 deficiency
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
dbSNP: rs587776533
rs587776533 		1.000 0.120 5 71604359 frameshift variant -/T delins
CUI: C1859499
Disease: 3-methylcrotonyl CoA carboxylase 2 deficiency
3-methylcrotonyl CoA carboxylase 2 deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 1 2001 2001
dbSNP: rs766753795
rs766753795 		1.000 0.120 5 71626703 missense variant A/G snv
CUI: C1859499
Disease: 3-methylcrotonyl CoA carboxylase 2 deficiency
3-methylcrotonyl CoA carboxylase 2 deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 1 2016 2016
dbSNP: rs1187203558
rs1187203558 		1.000 0.120 5 71596286 missense variant G/T snv
CUI: C1859499
Disease: 3-methylcrotonyl CoA carboxylase 2 deficiency
3-methylcrotonyl CoA carboxylase 2 deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1195601465
rs1195601465 		1.000 0.120 5 71626686 missense variant C/T snv 7.0E-06
CUI: C1859499
Disease: 3-methylcrotonyl CoA carboxylase 2 deficiency
3-methylcrotonyl CoA carboxylase 2 deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1254750166
rs1254750166 		1.000 0.120 5 71626674 missense variant G/A snv
CUI: C1859499
Disease: 3-methylcrotonyl CoA carboxylase 2 deficiency
3-methylcrotonyl CoA carboxylase 2 deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1554137532
rs1554137532 		1.000 0.120 5 71635231 frameshift variant -/T delins
CUI: C1859499
Disease: 3-methylcrotonyl CoA carboxylase 2 deficiency
3-methylcrotonyl CoA carboxylase 2 deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs770769655
rs770769655 		1.000 0.120 5 71626744 frameshift variant -/C delins
CUI: C1859499
Disease: 3-methylcrotonyl CoA carboxylase 2 deficiency
3-methylcrotonyl CoA carboxylase 2 deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs886043524
rs886043524 		1.000 0.120 5 71626667 missense variant G/A snv
CUI: C1859499
Disease: 3-methylcrotonyl CoA carboxylase 2 deficiency
3-methylcrotonyl CoA carboxylase 2 deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs979584886
rs979584886 		1.000 0.120 5 71652729 missense variant G/A snv 2.1E-05
CUI: C1859499
Disease: 3-methylcrotonyl CoA carboxylase 2 deficiency
3-methylcrotonyl CoA carboxylase 2 deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs119103222
rs119103222 		1.000 0.120 5 71602621 missense variant T/C snv 4.0E-06 7.0E-06
CUI: C1859499
Disease: 3-methylcrotonyl CoA carboxylase 2 deficiency
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
dbSNP: rs139852818
rs139852818 		1.000 0.120 5 71649202 missense variant T/A;C snv 4.0E-06; 1.0E-03
CUI: C1859499
Disease: 3-methylcrotonyl CoA carboxylase 2 deficiency
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
dbSNP: rs1443551700
rs1443551700 		1.000 0.120 5 71635202 missense variant G/A snv 4.0E-06
CUI: C1859499
Disease: 3-methylcrotonyl CoA carboxylase 2 deficiency
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
dbSNP: rs535519604
rs535519604 		1.000 0.120 5 71604422 missense variant G/A;T snv 4.0E-06; 4.0E-06
CUI: C1859499
Disease: 3-methylcrotonyl CoA carboxylase 2 deficiency
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
dbSNP: rs119103221
rs119103221 		1.000 0.120 5 71635176 missense variant C/G snv 4.0E-06
CUI: C1859499
Disease: 3-methylcrotonyl CoA carboxylase 2 deficiency
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
dbSNP: rs1257849672
rs1257849672 		1.000 0.120 5 71656831 missense variant A/G snv 4.0E-06 3.5E-05
CUI: C1859499
Disease: 3-methylcrotonyl CoA carboxylase 2 deficiency
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
dbSNP: rs150327768
rs150327768 		1.000 0.120 5 71652739 missense variant A/C;G;T snv 2.0E-05; 8.0E-06; 4.0E-06
CUI: C1859499
Disease: 3-methylcrotonyl CoA carboxylase 2 deficiency
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