FH, fumarate hydratase, 2271

N. diseases: 231; N. variants: 143
Disease: Fumarase 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: rs1057524385
rs1057524385 		1.000 0.200 1 241504227 missense variant G/C snv 4.0E-06 1.4E-05
CUI: C0342770
Disease: Fumarase deficiency
Fumarase deficiency 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1060499630
rs1060499630 		0.882 0.320 1 241513659 stop gained G/A snv
CUI: C0342770
Disease: Fumarase deficiency
Fumarase deficiency 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1060499641
rs1060499641 		0.925 0.320 1 241504109 frameshift variant A/- del
CUI: C0342770
Disease: Fumarase deficiency
Fumarase deficiency 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1060499642
rs1060499642 		0.925 0.320 1 241504087 stop gained C/A snv
CUI: C0342770
Disease: Fumarase deficiency
Fumarase deficiency 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1060500883
rs1060500883 		1.000 0.200 1 241517245 stop gained A/T snv
CUI: C0342770
Disease: Fumarase deficiency
Fumarase deficiency 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1060500896
rs1060500896 		1.000 0.200 1 241504098 stop gained G/A;C;T snv 4.0E-06
CUI: C0342770
Disease: Fumarase deficiency
Fumarase deficiency 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1060500903
rs1060500903 		1.000 0.200 1 241500480 frameshift variant C/- del
CUI: C0342770
Disease: Fumarase deficiency
Fumarase deficiency 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1060500904
rs1060500904 		1.000 0.200 1 241502567 frameshift variant T/- delins
CUI: C0342770
Disease: Fumarase deficiency
Fumarase deficiency 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1064796708
rs1064796708 		1.000 0.200 1 241497916 stop gained A/C snv
CUI: C0342770
Disease: Fumarase deficiency
Fumarase deficiency 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1131691243
rs1131691243 		1.000 0.200 1 241506168 stop gained C/A snv
CUI: C0342770
Disease: Fumarase deficiency
Fumarase deficiency 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1131691246
rs1131691246 		1.000 0.200 1 241517271 stop gained -/TTCA delins
CUI: C0342770
Disease: Fumarase deficiency
Fumarase deficiency 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs11545654
rs11545654 		1.000 0.200 1 241512085 missense variant C/T snv
CUI: C0342770
Disease: Fumarase deficiency
Fumarase deficiency 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs11545655
rs11545655 		1.000 0.200 1 241504129 missense variant C/G;T snv
CUI: C0342770
Disease: Fumarase deficiency
Fumarase deficiency 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs11545658
rs11545658 		1.000 0.200 1 241508662 stop gained G/A snv
CUI: C0342770
Disease: Fumarase deficiency
Fumarase deficiency 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs121913119
rs121913119 		0.925 0.320 1 241504066 missense variant C/G snv
CUI: C0342770
Disease: Fumarase deficiency
Fumarase deficiency 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs121913121
rs121913121 		0.851 0.320 1 241513661 missense variant T/G snv
CUI: C0342770
Disease: Fumarase deficiency
Fumarase deficiency 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1553341012
rs1553341012 		1.000 0.200 1 241504068 frameshift variant T/- delins
CUI: C0342770
Disease: Fumarase deficiency
Fumarase deficiency 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1553341026
rs1553341026 		1.000 0.200 1 241504122 frameshift variant C/- del
CUI: C0342770
Disease: Fumarase deficiency
Fumarase deficiency 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1553341031
rs1553341031 		1.000 0.200 1 241504151 stop gained G/T snv
CUI: C0342770
Disease: Fumarase deficiency
Fumarase deficiency 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1553341034
rs1553341034 		1.000 0.200 1 241504158 frameshift variant -/T delins
CUI: C0342770
Disease: Fumarase deficiency
Fumarase deficiency 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1553341049
rs1553341049 		1.000 0.200 1 241504231 frameshift variant T/- del
CUI: C0342770
Disease: Fumarase deficiency
Fumarase deficiency 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1553341174
rs1553341174 		1.000 0.200 1 241506170 splice acceptor variant T/G snv
CUI: C0342770
Disease: Fumarase deficiency
Fumarase deficiency 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1553341353
rs1553341353 		1.000 0.200 1 241508707 stop gained G/A snv
CUI: C0342770
Disease: Fumarase deficiency
Fumarase deficiency 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1558396320
rs1558396320 		1.000 0.200 1 241500476 stop gained C/A snv
CUI: C0342770
Disease: Fumarase deficiency
Fumarase deficiency 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1558397011
rs1558397011 		1.000 0.200 1 241502474 frameshift variant T/- del
CUI: C0342770
Disease: Fumarase deficiency
Fumarase deficiency 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms 0.700 0