MMUT, methylmalonyl-CoA mutase, 4594

N. diseases: 147; N. variants: 177
Disease: Methylmalonic Aciduria, mut(0) Type ×
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: rs121918248
rs121918248 		0.925 0.080 6 49459415 stop gained G/A snv 2.1E-05
CUI: C1855115
Disease: Methylmalonic Aciduria, mut(0) Type
Methylmalonic Aciduria, mut(0) Type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs121918249
rs121918249 		0.925 0.080 6 49459154 missense variant A/G snv 1.2E-05 7.0E-06
CUI: C1855115
Disease: Methylmalonic Aciduria, mut(0) Type
Methylmalonic Aciduria, mut(0) Type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs121918250
rs121918250 		0.925 0.080 6 49451668 missense variant G/T snv 1.4E-05
CUI: C1855115
Disease: Methylmalonic Aciduria, mut(0) Type
Methylmalonic Aciduria, mut(0) Type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs121918251
rs121918251 		0.925 0.080 6 49459189 missense variant C/T snv 6.4E-05 4.2E-05
CUI: C1855115
Disease: Methylmalonic Aciduria, mut(0) Type
Methylmalonic Aciduria, mut(0) Type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs121918254
rs121918254 		0.925 0.080 6 49440295 missense variant C/G;T snv 8.0E-06 4.2E-05
CUI: C1855115
Disease: Methylmalonic Aciduria, mut(0) Type
Methylmalonic Aciduria, mut(0) Type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs121918255
rs121918255 		0.925 0.080 6 49435473 missense variant C/G snv 4.0E-06
CUI: C1855115
Disease: Methylmalonic Aciduria, mut(0) Type
Methylmalonic Aciduria, mut(0) Type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs121918256
rs121918256 		0.925 0.080 6 49457789 missense variant T/A snv 6.8E-05 2.8E-05
CUI: C1855115
Disease: Methylmalonic Aciduria, mut(0) Type
Methylmalonic Aciduria, mut(0) Type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs121918257
rs121918257 		0.925 0.080 6 49459145 missense variant G/A snv 1.2E-04 1.4E-05
CUI: C1855115
Disease: Methylmalonic Aciduria, mut(0) Type
Methylmalonic Aciduria, mut(0) Type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs121918258
rs121918258 		0.851 0.200 6 49457801 missense variant C/A;T snv
CUI: C1855115
Disease: Methylmalonic Aciduria, mut(0) Type
Methylmalonic Aciduria, mut(0) Type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs483352778
rs483352778 		0.925 0.080 6 49459144 missense variant C/T snv 2.0E-05; 4.0E-06 1.4E-05
CUI: C1855115
Disease: Methylmalonic Aciduria, mut(0) Type
Methylmalonic Aciduria, mut(0) Type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs879253820
rs879253820 		0.925 0.080 6 49459465 start lost A/G snv
CUI: C1855115
Disease: Methylmalonic Aciduria, mut(0) Type
Methylmalonic Aciduria, mut(0) Type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0