IVD, isovaleryl-CoA dehydrogenase, 3712

N. diseases: 42; N. variants: 65
Disease: Isovaleryl-CoA dehydrogenase 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: rs121434284
rs121434284 		0.925 0.080 15 40405952 missense variant T/C snv
CUI: C0268575
Disease: Isovaleryl-CoA dehydrogenase deficiency
Isovaleryl-CoA dehydrogenase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 6 1991 2017
dbSNP: rs121434285
rs121434285 		0.925 0.080 15 40411600 missense variant G/T snv 8.0E-06; 8.0E-06 2.1E-05
CUI: C0268575
Disease: Isovaleryl-CoA dehydrogenase deficiency
Isovaleryl-CoA dehydrogenase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 6 1991 2017
dbSNP: rs754600862
rs754600862 		1.000 0.080 15 40416336 missense variant T/C snv 8.0E-06 7.0E-06
CUI: C0268575
Disease: Isovaleryl-CoA dehydrogenase deficiency
Isovaleryl-CoA dehydrogenase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 6 1991 2017
dbSNP: rs760822119
rs760822119 		1.000 0.080 15 40416293 missense variant T/C snv 4.0E-06
CUI: C0268575
Disease: Isovaleryl-CoA dehydrogenase deficiency
Isovaleryl-CoA dehydrogenase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 6 1991 2017
dbSNP: rs398123683
rs398123683 		1.000 0.080 15 40410799 splice donor variant T/C snv 2.0E-05 1.4E-05
CUI: C0268575
Disease: Isovaleryl-CoA dehydrogenase deficiency
Isovaleryl-CoA dehydrogenase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 5 2000 2014
dbSNP: rs34695403
rs34695403 		1.000 0.080 15 40407639 missense variant C/G;T snv 2.4E-05; 1.2E-05
CUI: C0268575
Disease: Isovaleryl-CoA dehydrogenase deficiency
Isovaleryl-CoA dehydrogenase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 3 2000 2007
dbSNP: rs786204427
rs786204427 		1.000 0.080 15 40411257 splice acceptor variant CA/GG mnv
CUI: C0268575
Disease: Isovaleryl-CoA dehydrogenase deficiency
Isovaleryl-CoA dehydrogenase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 3 2000 2011
dbSNP: rs786204613
rs786204613 		1.000 0.080 15 40418168 frameshift variant T/- delins
CUI: C0268575
Disease: Isovaleryl-CoA dehydrogenase deficiency
Isovaleryl-CoA dehydrogenase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 3 1991 2012
dbSNP: rs1555404784
rs1555404784 		1.000 0.080 15 40414888 splice acceptor variant G/A snv
CUI: C0268575
Disease: Isovaleryl-CoA dehydrogenase deficiency
Isovaleryl-CoA dehydrogenase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 2 1998 2000
dbSNP: rs373594717
rs373594717 		1.000 0.080 15 40405819 start lost A/C;G;T snv 4.0E-06; 4.0E-06
CUI: C0268575
Disease: Isovaleryl-CoA dehydrogenase deficiency
Isovaleryl-CoA dehydrogenase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 2 1990 1992
dbSNP: rs566691073
rs566691073 		1.000 0.080 15 40405820 start lost T/C;G snv 1.6E-05 7.0E-06
CUI: C0268575
Disease: Isovaleryl-CoA dehydrogenase deficiency
Isovaleryl-CoA dehydrogenase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 2 1990 1992
dbSNP: rs769048174
rs769048174 		1.000 0.080 15 40410722 frameshift variant T/- del 7.0E-06
CUI: C0268575
Disease: Isovaleryl-CoA dehydrogenase deficiency
Isovaleryl-CoA dehydrogenase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 2 2000 2013
dbSNP: rs771914739
rs771914739 		1.000 0.080 15 40411258 splice acceptor variant A/C;G snv 4.0E-06; 8.0E-06
CUI: C0268575
Disease: Isovaleryl-CoA dehydrogenase deficiency
Isovaleryl-CoA dehydrogenase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 2 2000 2007
dbSNP: rs1398838997
rs1398838997 		1.000 0.080 15 40410627 splice acceptor variant G/A snv 3.5E-05
CUI: C0268575
Disease: Isovaleryl-CoA dehydrogenase deficiency
Isovaleryl-CoA dehydrogenase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 1 2006 2006
dbSNP: rs1555405428
rs1555405428 		1.000 0.080 15 40418219 frameshift variant GGCGGCTGGTCATCGGCAGAGCCTTCAA/- delins
CUI: C0268575
Disease: Isovaleryl-CoA dehydrogenase deficiency
Isovaleryl-CoA dehydrogenase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 1 2000 2000
dbSNP: rs759159766
rs759159766 		1.000 0.080 15 40414968 frameshift variant -/G delins 1.2E-05; 8.0E-06 7.0E-06
CUI: C0268575
Disease: Isovaleryl-CoA dehydrogenase deficiency
Isovaleryl-CoA dehydrogenase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 1 2000 2000
dbSNP: rs763422682
rs763422682 		1.000 0.080 15 40418196 missense variant T/C snv 8.0E-06
CUI: C0268575
Disease: Isovaleryl-CoA dehydrogenase deficiency
Isovaleryl-CoA dehydrogenase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 1 2017 2017
dbSNP: rs776015412
rs776015412 		1.000 0.080 15 40410690 stop gained C/T snv 1.2E-05
CUI: C0268575
Disease: Isovaleryl-CoA dehydrogenase deficiency
Isovaleryl-CoA dehydrogenase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 1 2016 2016
dbSNP: rs796051983
rs796051983 		1.000 0.080 15 40415412 missense variant C/T snv 8.0E-06
CUI: C0268575
Disease: Isovaleryl-CoA dehydrogenase deficiency
Isovaleryl-CoA dehydrogenase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 1 2014 2014
dbSNP: rs1057516769
rs1057516769 		1.000 0.080 15 40413046 frameshift variant -/T delins
CUI: C0268575
Disease: Isovaleryl-CoA dehydrogenase deficiency
Isovaleryl-CoA dehydrogenase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1057517043
rs1057517043 		1.000 0.080 15 40411554 splice acceptor variant G/A snv
CUI: C0268575
Disease: Isovaleryl-CoA dehydrogenase deficiency
Isovaleryl-CoA dehydrogenase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1057517056
rs1057517056 		1.000 0.080 15 40416076 splice acceptor variant A/G snv
CUI: C0268575
Disease: Isovaleryl-CoA dehydrogenase deficiency
Isovaleryl-CoA dehydrogenase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1057517379
rs1057517379 		1.000 0.080 15 40405929 frameshift variant CG/- del
CUI: C0268575
Disease: Isovaleryl-CoA dehydrogenase deficiency
Isovaleryl-CoA dehydrogenase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1555403211
rs1555403211 		1.000 0.080 15 40407647 frameshift variant -/ATGG delins
CUI: C0268575
Disease: Isovaleryl-CoA dehydrogenase deficiency
Isovaleryl-CoA dehydrogenase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1555403942
rs1555403942 		1.000 0.080 15 40410819 splice acceptor variant ACACGCTAATCTCACAGTGCAACCACCAACTAAAAGATACCCTCTCCCCTTGGGGGCCAGTCAGACCTGCTTTCTGTAGCATGCTGCCATGAACCAAATGTGGTTAGGAAGGGGCCATGGATTGCTTTAAAATACTTGAGCCAAAAATAATAAAAATAGGACCAGAACTCTTGCATTGAACAACAGACAGACAACATTTGAAGAGAACTCTAAGAAATGGAAGAGTAGGACTAGCTTCCTTTGCAAAGGGAATGGAAAAAGGAGAGGCATTTTCAGCCTTGTAGCCATTGGGCTTAGAAGAGACTTCTAGGACTTTACCGACACCCTGGTCTGAGAGCGAAGTTTGAAGGGGTTTAATGTGGACAGGAAGAGGCAGTACCAGTGAGCTGCTCTAGGGTACTCTGAGGTTGTAACAAGGCCTGTTGGGGGTTTTCCTTGCAGCTGATCAGTGGTGAGTACATCGGAGCCCTGGCCATGAGTGAGCCCAATGCAGGC/GTTG delins
CUI: C0268575
Disease: Isovaleryl-CoA dehydrogenase deficiency
Isovaleryl-CoA dehydrogenase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0