MMAB, metabolism of cobalamin associated B, 326625

N. diseases: 46; N. variants: 40
Disease: Methylmalonic aciduria cblB 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: rs864309509
rs864309509 		1.000 0.080 12 109568773 missense variant A/G snv
CUI: C1855102
Disease: Methylmalonic aciduria cblB type
Methylmalonic aciduria cblB type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.810 1.000 4 2002 2018
dbSNP: rs376128990
rs376128990 		1.000 0.080 12 109561053 missense variant G/A;T snv 4.0E-06; 3.6E-05; 4.0E-06; 4.0E-06 3.6E-05
CUI: C1855102
Disease: Methylmalonic aciduria cblB type
Methylmalonic aciduria cblB type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 12 2002 2014
dbSNP: rs28941784
rs28941784 		1.000 0.080 12 109561068 missense variant G/A snv 1.4E-04 1.5E-04
CUI: C1855102
Disease: Methylmalonic aciduria cblB type
Methylmalonic aciduria cblB type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 11 2002 2014
dbSNP: rs749758687
rs749758687 		1.000 0.080 12 109561047 stop gained C/A;G;T snv 8.0E-06 1.4E-05
CUI: C1855102
Disease: Methylmalonic aciduria cblB type
Methylmalonic aciduria cblB type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 3 2002 2008
dbSNP: rs35648932
rs35648932 		1.000 0.080 12 109561798 missense variant C/T snv 6.9E-04 2.7E-03
CUI: C1855102
Disease: Methylmalonic aciduria cblB type
Methylmalonic aciduria cblB type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 0
dbSNP: rs398124434
rs398124434 		1.000 0.080 12 109561056 missense variant G/A;C;T snv 2.0E-05
CUI: C1855102
Disease: Methylmalonic aciduria cblB type
Methylmalonic aciduria cblB type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 6 2006 2018
dbSNP: rs199971687
rs199971687 		1.000 0.080 12 109565177 splice acceptor variant C/T snv 2.8E-05 2.8E-05
CUI: C1855102
Disease: Methylmalonic aciduria cblB type
Methylmalonic aciduria cblB type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 4 2005 2014
dbSNP: rs756414548
rs756414548 		1.000 0.080 12 109561055 missense variant C/T snv 4.0E-06
CUI: C1855102
Disease: Methylmalonic aciduria cblB type
Methylmalonic aciduria cblB type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 4 2006 2014
dbSNP: rs1555274496
rs1555274496 		1.000 0.080 12 109561046 protein altering variant -/GGCACACGGCCCGGC delins
CUI: C1855102
Disease: Methylmalonic aciduria cblB type
Methylmalonic aciduria cblB type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 2 2006 2012
dbSNP: rs369296618
rs369296618 		1.000 0.080 12 109557081 stop gained G/A snv 3.2E-05 3.5E-05
CUI: C1855102
Disease: Methylmalonic aciduria cblB type
Methylmalonic aciduria cblB type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 2 2006 2011
dbSNP: rs557884699
rs557884699 		1.000 0.080 12 109561485 stop gained C/A;T snv 6.4E-06
CUI: C1855102
Disease: Methylmalonic aciduria cblB type
Methylmalonic aciduria cblB type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 2 2007 2012
dbSNP: rs763935916
rs763935916 		1.000 0.080 12 109568864 splice acceptor variant C/A snv 4.0E-05 1.4E-05
CUI: C1855102
Disease: Methylmalonic aciduria cblB type
Methylmalonic aciduria cblB type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 2 2002 2014
dbSNP: rs864309510
rs864309510 		1.000 0.080 12 109561853 splice acceptor variant C/G snv 4.3E-06
CUI: C1855102
Disease: Methylmalonic aciduria cblB type
Methylmalonic aciduria cblB type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 2 2010 2010
dbSNP: rs1481415459
rs1481415459 		1.000 0.080 12 109573469 stop gained G/T snv 2.1E-05
CUI: C1855102
Disease: Methylmalonic aciduria cblB type
Methylmalonic aciduria cblB type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 1 2014 2014
dbSNP: rs1555274254
rs1555274254 		1.000 0.080 12 109559157 splice acceptor variant T/G snv
CUI: C1855102
Disease: Methylmalonic aciduria cblB type
Methylmalonic aciduria cblB type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 1 2006 2006
dbSNP: rs1383825118
rs1383825118 		1.000 0.080 12 109557120 frameshift variant GA/- delins 7.0E-06
CUI: C1855102
Disease: Methylmalonic aciduria cblB type
Methylmalonic aciduria cblB type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1555274484
rs1555274484 		1.000 0.080 12 109561022 splice donor variant CAGCCCTCTTACCGTCTCTC/- delins
CUI: C1855102
Disease: Methylmalonic aciduria cblB type
Methylmalonic aciduria cblB type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1555274493
rs1555274493 		1.000 0.080 12 109561039 frameshift variant -/TCTCTCG delins
CUI: C1855102
Disease: Methylmalonic aciduria cblB type
Methylmalonic aciduria cblB type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1555274497
rs1555274497 		1.000 0.080 12 109561047 frameshift variant CCGGC/-;CCGGCCCGGC delins
CUI: C1855102
Disease: Methylmalonic aciduria cblB type
Methylmalonic aciduria cblB type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1555275604
rs1555275604 		1.000 0.080 12 109568865 splice acceptor variant T/- del
CUI: C1855102
Disease: Methylmalonic aciduria cblB type
Methylmalonic aciduria cblB type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1555276160
rs1555276160 		1.000 0.080 12 109573374 frameshift variant C/- delins
CUI: C1855102
Disease: Methylmalonic aciduria cblB type
Methylmalonic aciduria cblB type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs746219370
rs746219370 		1.000 0.080 12 109561052 missense variant C/T snv 1.2E-05 2.8E-05
CUI: C1855102
Disease: Methylmalonic aciduria cblB type
Methylmalonic aciduria cblB type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs756195708
rs756195708 		1.000 0.080 12 109561040 missense variant C/T snv 8.1E-06 1.4E-05
CUI: C1855102
Disease: Methylmalonic aciduria cblB type
Methylmalonic aciduria cblB type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs864309511
rs864309511 		1.000 0.080 12 109568770 missense variant C/T snv
CUI: C1855102
Disease: Methylmalonic aciduria cblB type
Methylmalonic aciduria cblB type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs864309512
rs864309512 		1.000 0.080 12 109561052 inframe insertion GGC/-;GGCGGC delins
CUI: C1855102
Disease: Methylmalonic aciduria cblB type
Methylmalonic aciduria cblB type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0