L2HGDH, L-2-hydroxyglutarate dehydrogenase, 79944

N. diseases: 62; N. variants: 18
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: rs267607206
rs267607206 		1.000 0.120 14 50302132 missense variant T/A;C snv
CUI: C1855995
Disease: L-2-HYDROXYGLUTARIC ACIDURIA
L-2-HYDROXYGLUTARIC ACIDURIA 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 3 2004 2005
dbSNP: rs118204020
rs118204020 		1.000 0.120 14 50269164 missense variant G/A snv 1.2E-05 1.4E-05
CUI: C1855995
Disease: L-2-HYDROXYGLUTARIC ACIDURIA
L-2-HYDROXYGLUTARIC ACIDURIA 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 0
dbSNP: rs118204021
rs118204021 		1.000 0.120 14 50302994 missense variant C/T snv
CUI: C1855995
Disease: L-2-HYDROXYGLUTARIC ACIDURIA
L-2-HYDROXYGLUTARIC ACIDURIA 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 0
dbSNP: rs970541687
rs970541687 		0.925 0.120 14 50302917 missense variant T/C snv
CUI: C1855995
Disease: L-2-HYDROXYGLUTARIC ACIDURIA
L-2-HYDROXYGLUTARIC ACIDURIA 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.710 1.000 1 2014 2014
dbSNP: rs72683923
rs72683923 		14 50269229 synonymous variant T/C snv 1.0E-02 9.9E-03
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 3 2019 2019
dbSNP: rs72683923
rs72683923 		14 50269229 synonymous variant T/C snv 1.0E-02 9.9E-03
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2018 2018
dbSNP: rs937345512
rs937345512 		1.000 0.120 14 50302950 stop gained G/A snv 1.2E-05 1.4E-05
CUI: C1855995
Disease: L-2-HYDROXYGLUTARIC ACIDURIA
L-2-HYDROXYGLUTARIC ACIDURIA 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 1 2005 2005
dbSNP: rs150299874
rs150299874 		1.000 0.120 14 50302901 splice donor variant C/T snv 1.2E-05 7.0E-06
CUI: C0231687
Disease: Spastic gait
Spastic gait 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs150299874
rs150299874 		1.000 0.120 14 50302901 splice donor variant C/T snv 1.2E-05 7.0E-06
CUI: C0018681
Disease: Headache
Headache 		Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs150299874
rs150299874 		1.000 0.120 14 50302901 splice donor variant C/T snv 1.2E-05 7.0E-06
CUI: C1855995
Disease: L-2-HYDROXYGLUTARIC ACIDURIA
L-2-HYDROXYGLUTARIC ACIDURIA 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs150299874
rs150299874 		1.000 0.120 14 50302901 splice donor variant C/T snv 1.2E-05 7.0E-06
CUI: C0750937
Disease: Ataxia, Appendicular
Ataxia, Appendicular 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs150299874
rs150299874 		1.000 0.120 14 50302901 splice donor variant C/T snv 1.2E-05 7.0E-06
CUI: C1843921
Disease: Postural instability
Postural instability 		Nervous System Diseases 0.700 0
dbSNP: rs1555328749
rs1555328749 		1.000 0.120 14 50267802 frameshift variant T/- del
CUI: C1855995
Disease: L-2-HYDROXYGLUTARIC ACIDURIA
L-2-HYDROXYGLUTARIC ACIDURIA 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs199690954
rs199690954 		1.000 0.120 14 50302989 missense variant C/T snv 1.6E-05 3.5E-05
CUI: C1855995
Disease: L-2-HYDROXYGLUTARIC ACIDURIA
L-2-HYDROXYGLUTARIC ACIDURIA 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs387907013
rs387907013 		1.000 0.120 14 50267814 stop gained G/A snv 4.0E-06 1.4E-05
CUI: C1855995
Disease: L-2-HYDROXYGLUTARIC ACIDURIA
L-2-HYDROXYGLUTARIC ACIDURIA 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs750044734
rs750044734 		1.000 0.120 14 50247149 missense variant T/G snv 4.0E-06
CUI: C1855995
Disease: L-2-HYDROXYGLUTARIC ACIDURIA
L-2-HYDROXYGLUTARIC ACIDURIA 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs766538932
rs766538932 		1.000 0.120 14 50294125 frameshift variant G/- delins 3.6E-05 4.9E-05
CUI: C1855995
Disease: L-2-HYDROXYGLUTARIC ACIDURIA
L-2-HYDROXYGLUTARIC ACIDURIA 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs786200869
rs786200869 		1.000 0.120 14 50265439 frameshift variant A/- del
CUI: C1855995
Disease: L-2-HYDROXYGLUTARIC ACIDURIA
L-2-HYDROXYGLUTARIC ACIDURIA 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs786200870
rs786200870 		1.000 0.120 14 50269162 splice donor variant C/A snv
CUI: C1855995
Disease: L-2-HYDROXYGLUTARIC ACIDURIA
L-2-HYDROXYGLUTARIC ACIDURIA 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs797045678
rs797045678 		1.000 0.120 14 50294190 frameshift variant T/- delins
CUI: C1855995
Disease: L-2-HYDROXYGLUTARIC ACIDURIA
L-2-HYDROXYGLUTARIC ACIDURIA 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs887386390
rs887386390 		0.925 0.120 14 50283990 missense variant T/C snv
CUI: C1855995
Disease: L-2-HYDROXYGLUTARIC ACIDURIA
L-2-HYDROXYGLUTARIC ACIDURIA 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1025426883
rs1025426883 		0.925 0.120 14 50247167 missense variant A/G snv
CUI: C0268595
Disease: Glutaric aciduria, type 1
Glutaric aciduria, type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2004 2004
dbSNP: rs1025426883
rs1025426883 		0.925 0.120 14 50247167 missense variant A/G snv
CUI: C3152055
Disease: D-2-HYDROXYGLUTARIC ACIDURIA 1
D-2-HYDROXYGLUTARIC ACIDURIA 1 		0.010 1.000 1 2004 2004
dbSNP: rs145390085
rs145390085 		1.000 0.040 14 50269297 missense variant A/G snv
CUI: C1096063
Disease: Drug Resistant Epilepsy
Drug Resistant Epilepsy 		Nervous System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs145390085
rs145390085 		1.000 0.040 14 50269297 missense variant A/G snv
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.010 1.000 1 2016 2016