CPT2, carnitine palmitoyltransferase 2, 1376

N. diseases: 187; N. variants: 78
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057517473
rs1057517473
Entrez Id: 1376
Gene Symbol: CPT2
CPT2
CUI: C1833508
Disease:
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs1057517473
rs1057517473
Entrez Id: 1376
Gene Symbol: CPT2
CPT2
CUI: C1833518
Disease:
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs1057517473
rs1057517473
Entrez Id: 1376
Gene Symbol: CPT2
CPT2
CUI: C1833511
Disease:
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs1057517477
rs1057517477
Entrez Id: 1376
Gene Symbol: CPT2
CPT2
CUI: C1833518
Disease:
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL 		C 0.700 GeneticVariation CLINVAR A novel nonsense mutation (515del4) in muscle carnitine palmitoyltransferase II deficiency. 11855939 2002
dbSNP: rs1057517477
rs1057517477
Entrez Id: 1376
Gene Symbol: CPT2
CPT2
CUI: C1833508
Disease:
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET 		C 0.700 GeneticVariation CLINVAR A novel nonsense mutation (515del4) in muscle carnitine palmitoyltransferase II deficiency. 11855939 2002
dbSNP: rs1057517477
rs1057517477
Entrez Id: 1376
Gene Symbol: CPT2
CPT2
CUI: C1833511
Disease:
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE 		C 0.700 GeneticVariation CLINVAR A novel nonsense mutation (515del4) in muscle carnitine palmitoyltransferase II deficiency. 11855939 2002
dbSNP: rs1057517492
rs1057517492
Entrez Id: 1376
Gene Symbol: CPT2
CPT2
CUI: C1833518
Disease:
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1057517492
rs1057517492
Entrez Id: 1376
Gene Symbol: CPT2
CPT2
CUI: C1833508
Disease:
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1057517492
rs1057517492
Entrez Id: 1376
Gene Symbol: CPT2
CPT2
CUI: C1833511
Disease:
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1057517493
rs1057517493
Entrez Id: 1376
Gene Symbol: CPT2
CPT2
CUI: C1833511
Disease:
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1057517493
rs1057517493
Entrez Id: 1376
Gene Symbol: CPT2
CPT2
CUI: C1833508
Disease:
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1057517493
rs1057517493
Entrez Id: 1376
Gene Symbol: CPT2
CPT2
CUI: C1833518
Disease:
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1057517494
rs1057517494
Entrez Id: 1376
Gene Symbol: CPT2
CPT2
CUI: C1833511
Disease:
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs1057517494
rs1057517494
Entrez Id: 1376
Gene Symbol: CPT2
CPT2
CUI: C1833518
Disease:
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs1057517494
rs1057517494
Entrez Id: 1376
Gene Symbol: CPT2
CPT2
CUI: C1833508
Disease:
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs1057517507
rs1057517507
Entrez Id: 1376
Gene Symbol: CPT2
CPT2
CUI: C1833518
Disease:
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs1057517507
rs1057517507
Entrez Id: 1376
Gene Symbol: CPT2
CPT2
CUI: C1833508
Disease:
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs1057517507
rs1057517507
Entrez Id: 1376
Gene Symbol: CPT2
CPT2
CUI: C1833511
Disease:
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs1057517510
rs1057517510
Entrez Id: 1376
Gene Symbol: CPT2
CPT2
CUI: C1833511
Disease:
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE 		TCCGGGAGCCCCCAGTCGGC 0.700 GeneticVariation CLINVAR
dbSNP: rs1057517510
rs1057517510
Entrez Id: 1376
Gene Symbol: CPT2
CPT2
CUI: C1833518
Disease:
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL 		TCCGGGAGCCCCCAGTCGGC 0.700 GeneticVariation CLINVAR
dbSNP: rs1057517510
rs1057517510
Entrez Id: 1376
Gene Symbol: CPT2
CPT2
CUI: C1833508
Disease:
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET 		TCCGGGAGCCCCCAGTCGGC 0.700 GeneticVariation CLINVAR
dbSNP: rs1057517515
rs1057517515
Entrez Id: 1376
Gene Symbol: CPT2
CPT2
CUI: C1833508
Disease:
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET 		CA 0.700 GeneticVariation CLINVAR
dbSNP: rs1057517515
rs1057517515
Entrez Id: 1376
Gene Symbol: CPT2
CPT2
CUI: C1833511
Disease:
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE 		CA 0.700 GeneticVariation CLINVAR
dbSNP: rs1057517515
rs1057517515
Entrez Id: 1376
Gene Symbol: CPT2
CPT2
CUI: C1833518
Disease:
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL 		CA 0.700 GeneticVariation CLINVAR
dbSNP: rs1057517517
rs1057517517
Entrez Id: 1376
Gene Symbol: CPT2
CPT2
CUI: C1833511
Disease:
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE 		A 0.700 GeneticVariation CLINVAR