CDSP
MCID: CRN239
MIFTS: 62

Carnitine Deficiency, Systemic Primary (CDSP)

Categories: Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Carnitine Deficiency, Systemic Primary

MalaCards integrated aliases for Carnitine Deficiency, Systemic Primary:

Name: Carnitine Deficiency, Systemic Primary 56 13 39
Systemic Primary Carnitine Deficiency 24 52 58 73 36
Renal Carnitine Transport Defect 12 25 29 6 71
Carnitine Uptake Defect 56 12 24 52 25
Carnitine Transporter Deficiency 12 74 52 25
Systemic Carnitine Deficiency 56 74 25 43
Cdsp 56 24 58 73
Primary Carnitine Deficiency 12 52 25
Carnitine Uptake Deficiency 52 25 58
Cud 56 25 58
Carnitine Deficiency, Systemic, Due to Defect in Renal Reabsorption of Carnitine 56 52
Deficiency of Plasma-Membrane Carnitine Transporter 12 58
Systemic Primary Carnitine Deficiency Disease 12 15
Carnitine Deficiency, Primary 56 54
Carnitine Transporter, Plasma-Membrane, Deficiency of 56
Carnitine Plasma-Membrane Transporter Deficiency 52
Systemic Carnitine Deficiency; Scd 56
Carnitine Uptake Defect; Cud 56
Carnitine Transporter Defect 58
Carnitine Transport Defect 24
Spcd 58
Scd 56

Characteristics:

Orphanet epidemiological data:

58
systemic primary carnitine deficiency
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Europe),1-9/100000 (United States),1-9/100000 (Japan),1-9/1000000 (Australia),6-9/10000 (Faroe Islands),>1/1000 (Faroe Islands); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
two main presentations
onset in infancy of acute hypoglycemic episodes
onset in childhood (1 to 7 years) of progressive cardiomyopathy and muscle weakness
carnitine supplementation can prevent further episodes and declines in cardiac function


HPO:

31
carnitine deficiency, systemic primary:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism


Summaries for Carnitine Deficiency, Systemic Primary

Genetics Home Reference : 25 Primary carnitine deficiency is a condition that prevents the body from using certain fats for energy, particularly during periods without food (fasting). Carnitine, a natural substance acquired mostly through the diet, is used by cells to process fats and produce energy. Signs and symptoms of primary carnitine deficiency typically appear during infancy or early childhood and can include severe brain dysfunction (encephalopathy), a weakened and enlarged heart (cardiomyopathy), confusion, vomiting, muscle weakness, and low blood sugar (hypoglycemia). The severity of this condition varies among affected individuals. Some people with primary carnitine deficiency are asymptomatic, which means they do not have any signs or symptoms of the condition. All individuals with this disorder are at risk for heart failure, liver problems, coma, and sudden death. Problems related to primary carnitine deficiency can be triggered by periods of fasting or by illnesses such as viral infections. This disorder is sometimes mistaken for Reye syndrome, a severe disorder that may develop in children while they appear to be recovering from viral infections such as chicken pox or flu. Most cases of Reye syndrome are associated with the use of aspirin during these viral infections.

MalaCards based summary : Carnitine Deficiency, Systemic Primary, also known as systemic primary carnitine deficiency, is related to carbonic anhydrase va deficiency, hyperammonemia due to and muscular lipidosis, and has symptoms including muscle weakness An important gene associated with Carnitine Deficiency, Systemic Primary is SLC22A5 (Solute Carrier Family 22 Member 5), and among its related pathways/superpathways are Metabolism and Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha). The drugs carnitine and Nitroprusside have been mentioned in the context of this disorder. Affiliated tissues include liver, heart and brain, and related phenotypes are hepatomegaly and vomiting

Disease Ontology : 12 An amino acid metabolic disorder that involves defective proteins called carnitine transporters, which bring carnitine into cells and prevent its escape from the body preventing the body cannot utilize fats for energy.

NIH Rare Diseases : 52 Primary carnitine deficiency is a genetic condition that prevents the body from using certain fats for energy, particularly during periods without food (fasting). The nature and severity of signs and symptoms may vary, but they most often appear during infancy or early childhood and can include severe brain dysfunction (encephalopathy ), cardiomyopathy , confusion, vomiting, muscle weakness, and hypoglycemia . Some individuals may only have fatigability in adulthood, or no symptoms at all. This condition is caused by mutations in the SLC22A5 gene and is inherited in an autosomal recessive manner. Treatment and prevention of symptoms typically includes oral L-carnitine supplementation.

OMIM : 56 Primary systemic carnitine deficiency is due to a defect in the high-affinity carnitine transporter expressed in muscle, heart, kidney, lymphoblasts, and fibroblasts. This results in impaired fatty acid oxidation in skeletal and heart muscle. In addition, renal wasting of carnitine results in low serum levels and diminished hepatic uptake of carnitine by passive diffusion, which impairs ketogenesis (Lamhonwah et al., 2002). If diagnosed early, all clinical manifestations of the disorder can be completely reversed by supplementation of carnitine. However, if left untreated, patients will develop lethal heart failure (summary by Shibbani et al., 2014). See also myopathic carnitine deficiency (212160), which is restricted to skeletal muscle. (212140)

KEGG : 36 Systemic primary carnitine deficiency is a rare autosomal recessive disorder characterized by cardiomyopathy, muscle weakness, hypoglycemic hypoketotic coma, and hyperammonemia. Carnitine plays essential roles in the transportation of long-chain fatty acids into the mitochondria for beta-oxidation. This disease is caused by mutations in SLC22A5 that encodes the high-affinity sodium-dependent carnitine transporter, organic cation transporter 2 (OCTN2). The hallmark of systemic primary carnitine deficiency is low concentrations of carnitine in plasma, with accumulation of lipid deposits and renal leakage of carnitine. The clinical symptoms are alleviated dramatically by oral administration of L-carnitine. However, if untreated, patients are precipitated into a crisis with cardiac arrest or Reye-like syndrome that includes acute encephalopathy and fatty degenerative liver failure.

UniProtKB/Swiss-Prot : 73 Systemic primary carnitine deficiency: Autosomal recessive disorder of fatty acid oxidation caused by defective carnitine transport. Present early in life with hypoketotic hypoglycemia and acute metabolic decompensation, or later in life with skeletal myopathy or cardiomyopathy.

Wikipedia : 74 Systemic primary carnitine deficiency (SPCD), is an inborn error of fatty acid transport caused by a... more...

GeneReviews: NBK84551

Related Diseases for Carnitine Deficiency, Systemic Primary

Diseases related to Carnitine Deficiency, Systemic Primary via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 182, show less)
# Related Disease Score Top Affiliating Genes
1 carbonic anhydrase va deficiency, hyperammonemia due to 30.7 SLC25A20 SLC25A13
2 muscular lipidosis 30.6 ETFDH ACADS
3 atrial standstill 1 30.4 SLC25A20 SLC22A5 HADHA ACADVL
4 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis 30.1 CPT2 ACADVL
5 organic acidemia 29.7 MMACHC ACADS ACADM
6 reye syndrome 29.2 SLC22A5 PC HADHA ETFDH CPT2 ACADVL
7 multiple carboxylase deficiency 28.9 SLC25A13 PC HADHA ACADS ACADM
8 acyl-coa dehydrogenase deficiency 27.6 SLC22A5 PC HADHA ETFDH ETFB ETFA
9 hypoglycemia 27.4 SLC25A20 SLC22A5 PC HADHB HADHA HADH
10 sickle cell disease 12.4
11 schnyder corneal dystrophy 12.1
12 ehlers-danlos syndrome, spondylodysplastic type, 3 11.8
13 sickle cell anemia 11.8
14 cardiac conduction defect 11.6
15 hemoglobinopathy 11.6
16 qt interval, variation in 11.5
17 diabetes mellitus, noninsulin-dependent 11.3
18 body mass index quantitative trait locus 11 11.3
19 abdominal obesity-metabolic syndrome 1 11.3
20 dysostosis 11.3
21 homocystinuria 11.3
22 spondylocostal dysostosis 3, autosomal recessive 11.2
23 superior semicircular canal dehiscence 11.2
24 subacute cerebellar degeneration 11.2
25 obsolete: secondary ciliary dyskinesia 11.2
26 fanconi anemia, complementation group d2 11.2
27 fanconi anemia, complementation group a 11.2
28 overnutrition 11.2
29 visceral steatosis 10.5
30 syncope 10.4
31 myoglobinuria, recurrent 10.3 CPT2 ACADVL
32 renal oncocytoma 10.3
33 acute chest syndrome 10.3
34 hemosiderosis 10.3
35 congestive heart failure 10.3
36 rare hereditary hemochromatosis 10.3
37 encephalopathy 10.3
38 carnitine-acylcarnitine translocase deficiency 10.3 SLC25A20 CPT2
39 thalassemia 10.2
40 heart disease 10.2
41 autosomal recessive disease 10.2
42 inflammatory bowel disease 5 10.2 SLC22A5 SLC22A4
43 cystoisosporiasis 10.2 SLC22A2 HADH
44 cardiac arrhythmia 10.2
45 coronary heart disease 1 10.2
46 infertility 10.2
47 spinocerebellar degeneration 10.2
48 riboflavin deficiency 10.1 ETFDH ETFA ACADS
49 colorectal cancer 10.1
50 beta-thalassemia 10.1
51 arrhythmogenic right ventricular cardiomyopathy 10.1
52 male infertility 10.1
53 spinal stenosis 10.1
54 sudden arrhythmia death syndrome 10.1
55 chronic pain 10.1
56 spinal cord injury 10.1
57 avascular necrosis 10.1
58 hyperornithinemia-hyperammonemia-homocitrullinuria syndrome 10.1 SLC25A20 SLC25A13
59 complement component 2 deficiency 10.1 HADHA ACADVL
60 multiple acyl-coa dehydrogenase deficiency, severe neonatal type 10.0 ETFDH ETFB ETFA
61 multiple acyl-coa dehydrogenase deficiency, mild type 10.0 ETFDH ETFB ETFA
62 myoglobinuria 10.0 HADH CPT2 ACADVL
63 sudden infant death syndrome 10.0
64 cardiac arrest 10.0
65 dilated cardiomyopathy 10.0
66 fatty liver disease 10.0
67 hypertrophic cardiomyopathy 10.0
68 visual epilepsy 10.0
69 gastroenteritis 10.0
70 seizure disorder 10.0
71 isovaleric acidemia 10.0 HADHA CPT2 ACADVL ACADS
72 mitochondrial trifunctional protein deficiency 10.0 HADHB HADHA
73 mitochondrial metabolism disease 9.9 SLC25A20 ETFDH CPT2 ACADS
74 hypercholesterolemia, familial, 1 9.9
75 leukemia, chronic lymphocytic 9.9
76 migraine with or without aura 1 9.9
77 papillomatosis, confluent and reticulated 9.9
78 thrombophilia due to thrombin defect 9.9
79 triiodothyronine receptor auxiliary protein 9.9
80 autism 9.9
81 proteasome-associated autoinflammatory syndrome 1 9.9
82 insulin-like growth factor i 9.9
83 ataxia and polyneuropathy, adult-onset 9.9
84 ventricular fibrillation, paroxysmal familial, 1 9.9
85 graft-versus-host disease 9.9
86 leptin deficiency or dysfunction 9.9
87 deficiency anemia 9.9
88 atrioventricular block 9.9
89 osteonecrosis 9.9
90 lymphocytic leukemia 9.9
91 bacterial infectious disease 9.9
92 microphthalmia 9.9
93 rabies 9.9
94 graves' disease 9.9
95 ehlers-danlos syndrome 9.9
96 megaloblastic anemia 9.9
97 bacteriuria 9.9
98 azoospermia 9.9
99 hypothyroidism 9.9
100 viral hepatitis 9.9
101 melanoma 9.9
102 hypogonadism 9.9
103 dermatitis 9.9
104 contact dermatitis 9.9
105 long qt syndrome 9.9
106 lipid metabolism disorder 9.9
107 ischemia 9.9
108 bone inflammation disease 9.9
109 middle ear disease 9.9
110 dystonia 9.9
111 hemolytic anemia 9.9
112 cerebrovascular disease 9.9
113 hypogonadotropism 9.9
114 end stage renal failure 9.9
115 peritonitis 9.9
116 vascular dementia 9.9
117 crohn's disease 9.9
118 pulmonary embolism 9.9
119 systolic heart failure 9.9
120 47,xyy 9.9
121 cerebellar degeneration 9.9
122 chronic graft versus host disease 9.9
123 dementia - subcortical 9.9
124 tremor 9.9
125 amino acid metabolic disorder 9.9 SLC25A13 SLC22A5 MMACHC
126 myopathy 9.9
127 alpha-methylacetoacetic aciduria 9.9 HADH ETFDH
128 glycogen storage disease iii 9.9
129 holocarboxylase synthetase deficiency 9.9
130 glycogen storage disease 9.9
131 peripheral nervous system disease 9.9
132 neuropathy 9.9
133 citrullinemia, type ii, adult-onset 9.9
134 inherited metabolic disorder 9.9
135 abetalipoproteinemia 9.9 HADHB HADHA CPT2
136 endocardial fibroelastosis 9.8
137 ocular motor apraxia 9.8
138 fatty liver disease, nonalcoholic 1 9.8
139 metabolic acidosis 9.8
140 hemopericardium 9.8
141 pericardial effusion 9.8
142 hepatic coma 9.8
143 hepatic encephalopathy 9.8
144 lipomatosis 9.8
145 mediastinal lipomatosis 9.8
146 lipid storage disease 9.8
147 48,xyyy 9.8
148 hypotonia 9.8
149 posttransplant acute limbic encephalitis 9.8
150 inclusion myopathy 9.8
151 semicircular canal dehiscence syndrome 9.8
152 cleft palate, isolated 9.8
153 carnitine deficiency, myopathic 9.8
154 long chain fatty acids, defect in transport of 9.8
155 alacrima, achalasia, and mental retardation syndrome 9.8
156 short qt syndrome 9.8
157 autism spectrum disorder 9.8
158 pre-eclampsia 9.8
159 mitral valve insufficiency 9.8
160 status epilepticus 9.8
161 hyperinsulinism 9.8
162 hepatitis 9.8
163 myocarditis 9.8
164 microcephaly 9.8
165 hyperinsulinemic hypoglycemia, familial, 6 9.8 PC HADH
166 mitochondrial complex i deficiency, nuclear type 1 9.8 ETFDH ETFB ETFA ACADS
167 long-chain 3-hydroxyacyl-coa dehydrogenase deficiency 9.8 HADHA HADH ACADVL ACADM
168 3-hydroxyacyl-coa dehydrogenase deficiency 9.8 HADHA HADH ACADVL ACADM
169 argininemia 9.8 SLC25A13 HADHA
170 maple syrup urine disease 9.7 SLC25A13 HADHA HADH ACADM
171 respiratory failure 9.7 HADHB HADHA CPT2 ACADVL
172 urea cycle disorder 9.6 SLC25A13 PC ACADS ACADM
173 citrullinemia, classic 9.5 SLC25A13 HADHA CPT2 ACADVL ACADS ACADM
174 carnitine palmitoyltransferase i deficiency 9.4 HADHB HADHA CPT2 ACADVL ACADS ACADM
175 3-methylcrotonyl-coa carboxylase deficiency 9.3 SLC25A20 SLC25A13 HADHA CPT2 ACADVL ACADS
176 propionic acidemia 9.2 SLC25A13 PC HADHA ACADVL ACADS ACADM
177 biotinidase deficiency 9.1 PC HADHA HADH ACADVL ACADS ACADM
178 carnitine palmitoyltransferase ii deficiency, infantile 8.9 SLC25A20 SLC22A5 HADHA HADH ETFDH CPT2
179 acyl-coa dehydrogenase, short-chain, deficiency of 8.7 SLC25A13 HADHA HADH ETFDH ETFA CPT2
180 acyl-coa dehydrogenase, medium-chain, deficiency of 8.3 SLC25A20 SLC25A13 SLC22A5 HADHA HADH ETFDH
181 multiple acyl-coa dehydrogenase deficiency 8.3 SLC25A20 SLC22A5 HADHA HADH ETFDH ETFB
182 acyl-coa dehydrogenase, very long-chain, deficiency of 8.1 SLC25A20 SLC25A13 HADHB HADHA HADH ETFDH

Graphical network of the top 20 diseases related to Carnitine Deficiency, Systemic Primary:



Diseases related to Carnitine Deficiency, Systemic Primary

Symptoms & Phenotypes for Carnitine Deficiency, Systemic Primary

Human phenotypes related to Carnitine Deficiency, Systemic Primary:

58 31 (showing 29, show less)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hepatomegaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0002240
2 vomiting 58 31 hallmark (90%) Very frequent (99-80%) HP:0002013
3 elevated hepatic transaminase 58 31 hallmark (90%) Very frequent (99-80%) HP:0002910
4 confusion 58 31 hallmark (90%) Very frequent (99-80%) HP:0001289
5 generalized tonic-clonic seizures with focal onset 58 31 hallmark (90%) Very frequent (99-80%) HP:0007334
6 clumsiness 58 31 hallmark (90%) Very frequent (99-80%) HP:0002312
7 neck muscle weakness 58 31 hallmark (90%) Very frequent (99-80%) HP:0000467
8 acute encephalopathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0006846
9 muscle weakness 58 31 Very frequent (99-80%) HP:0001324
10 muscular hypotonia 31 HP:0001252
11 failure to thrive 31 HP:0001508
12 myopathy 31 HP:0003198
13 cardiomegaly 31 HP:0001640
14 hypertrophic cardiomyopathy 31 HP:0001639
15 hypoglycemia 31 HP:0001943
16 generalized hypotonia 31 HP:0001290
17 congestive heart failure 31 HP:0001635
18 hepatic steatosis 31 HP:0001397
19 coma 31 HP:0001259
20 hyperammonemia 31 HP:0001987
21 lethargy 31 HP:0001254
22 encephalopathy 31 HP:0001298
23 recurrent hypoglycemia 31 HP:0001988
24 excessive daytime somnolence 31 HP:0001262
25 endocardial fibroelastosis 31 HP:0001706
26 decreased plasma carnitine 31 HP:0003234
27 impaired gluconeogenesis 31 HP:0005959
28 reduced muscle carnitine level 31 HP:0030362
29 decreased carnitine level in liver 31 HP:0045061

Symptoms via clinical synopsis from OMIM:

56
Muscle Soft Tissue:
muscle weakness
hypotonia
muscle biopsy shows lipid deposition

Abdomen Liver:
hepatomegaly
steatosis

Laboratory Abnormalities:
hyperammonemia
abnormal liver enzymes
increased urinary carnitine
decreased carnitine in serum, muscle, heart, and liver
impaired carnitine uptake in muscle, heart, kidney, fibroblasts, and lymphocytes
more
Metabolic Features:
hypoketotic hypoglycemic episodes, acute

Growth Other:
failure to thrive

Cardiovascular Heart:
cardiomegaly
hypertrophic cardiomyopathy
congestive heart failure
fatty infiltration of heart muscle

Neurologic Central Nervous System:
lethargy associated with hypoglycemia
encephalopathy associated with hypoglycemia
coma associated with hypoglycemia
reye syndrome
delay in gross motor development due to weakness

Clinical features from OMIM:

212140

UMLS symptoms related to Carnitine Deficiency, Systemic Primary:


muscle weakness

MGI Mouse Phenotypes related to Carnitine Deficiency, Systemic Primary:

45 (showing 4, show less)
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.07 ACADM ACADS ACADVL CPT2 HADH HADHA
2 mortality/aging MP:0010768 9.77 ACADM ACADS ACADVL CPT2 ETFDH HADHA
3 liver/biliary system MP:0005370 9.76 ACADM ACADS ACADVL HADHA HADHB SLC22A5
4 renal/urinary system MP:0005367 9.23 ACADS HADH HADHA MMACHC SLC22A2 SLC22A5

Drugs & Therapeutics for Carnitine Deficiency, Systemic Primary

Drugs for Carnitine Deficiency, Systemic Primary (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(showing 33, show less)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 carnitine Phase 2, Phase 3
2
Nitroprusside Approved, Investigational Phase 2 15078-28-1 11963622
3
Nitric Oxide Approved Phase 2 10102-43-9 145068
4
Vortioxetine Approved, Investigational Phase 2 508233-74-7 9966051
5
Simvastatin Approved Phase 2 79902-63-9 54454
6
Lithium carbonate Approved Phase 2 554-13-2
7
Isradipine Approved, Investigational Phase 2 75695-93-1 3784
8
Valproic acid Approved, Investigational Phase 2 99-66-1 3121
9
Calcium Approved, Nutraceutical Phase 2 7440-70-2 271
10 Nitric Oxide Donors Phase 2
11 Serotonin Receptor Agonists Phase 2
12 Tranquilizing Agents Phase 2
13 Serotonin Uptake Inhibitors Phase 2
14 Neurotransmitter Agents Phase 2
15 Psychotropic Drugs Phase 2
16 Serotonin Agents Phase 2
17 Central Nervous System Depressants Phase 2
18 Serotonin 5-HT3 Receptor Antagonists Phase 2
19 Antidepressive Agents Phase 2
20 Serotonin 5-HT1 Receptor Agonists Phase 2
21 Serotonin Antagonists Phase 2
22 Anti-Anxiety Agents Phase 2
23 Hypolipidemic Agents Phase 2
24 Anticholesteremic Agents Phase 2
25 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 2
26 Antimetabolites Phase 2
27 Lipid Regulating Agents Phase 2
28 Vasodilator Agents Phase 2
29 Antihypertensive Agents Phase 2
30 Hormones Phase 2
31 Calcium, Dietary Phase 2
32 calcium channel blockers Phase 2
33
Serotonin Investigational, Nutraceutical Phase 2 50-67-9 5202

Interventional clinical trials:

(showing 11, show less)
# Name Status NCT ID Phase Drugs
1 L-Carnitine Supplementation With and Without Health Coaching for Fatigue in Patients With Chronic Obstructive Pulmonary Disease (COPD) Completed NCT03008356 Phase 2, Phase 3
2 A Randomized Double-Blind, Placebo-Controlled, Proof of Concept Study of Intravenous Sodium Nitroprusside in Adults With Symptomatic Schizophrenia Completed NCT02164981 Phase 2 sodium nitroprusside
3 Interventional, Randomised, Double-blind, Placebo-controlled, Fixed-dose Study of Vortioxetine in Adults With Attention Deficit Hyperactivity Disorder (ADHD) Completed NCT02327013 Phase 2 vortioxetine 10 mg tablet;vortioxetine 20 mg tablet
4 Triheptanoin's Effect on Fatty Acid Oxidation and Exercise Tolerance in Patients With Debrancher Deficiency, Glycogenin-1 Deficiency and Phosphofructoinase Deficiency at Rest and During Exercise. A Randomized, Double-blind, Placebo-controlled, Cross-over Study Recruiting NCT03642860 Phase 2 Triheptanoin;Placebo Oil
5 Simvastatin Augmentation of Lithium Treatment in Bipolar Depression Terminated NCT01665950 Phase 2 Simvastatin;Placebo
6 An 8-week, Randomized, Phase 2, Double-blind, Sequential Parallel-group Comparison Study Of Two Dose Levels Of Pf 06372865 Compared To Placebo As An Adjunctive Treatment In Outpatients With Inadequate Response To Standard Of Care For Generalized Anxiety Disorder Terminated NCT02310568 Phase 2 PF-06372865.
7 Adjunctive Isradipine for the Treatment of Bipolar Depression Terminated NCT01784666 Phase 2 Isradipine;Placebo
8 Fat and Carbohydrate Metabolism During Exercise, With and Without L-carnitine Supplementation in Patients With Carnitine Transporter Deficiency Completed NCT02226419
9 Effects of Parenteral L-carnitine Supplementation in Premature Neonates Completed NCT00841295 Parenteral L-carnitine supplementation;Parenteral supplementation with sterile water
10 Influence of OCTN2 Variants on Carnitine Status and Plasma Triglycerides Completed NCT00187733
11 Clinical, Randomized and Double-blind Controlled Trial of an Educational Therapeutic Intervention for Family Caregivers on the Psychological and Behavioral Symptoms of Dementias (PRESTA Study) Completed NCT03732521

Search NIH Clinical Center for Carnitine Deficiency, Systemic Primary

Cochrane evidence based reviews: systemic carnitine deficiency

Genetic Tests for Carnitine Deficiency, Systemic Primary

Genetic tests related to Carnitine Deficiency, Systemic Primary:

# Genetic test Affiliating Genes
1 Renal Carnitine Transport Defect 29 SLC22A5

Anatomical Context for Carnitine Deficiency, Systemic Primary

MalaCards organs/tissues related to Carnitine Deficiency, Systemic Primary:

40
Liver, Heart, Brain, Kidney, Skeletal Muscle, Skin, Small Intestine

Publications for Carnitine Deficiency, Systemic Primary

Articles related to Carnitine Deficiency, Systemic Primary:

(showing 89, show less)
# Title Authors PMID Year
1
Maternal systemic primary carnitine deficiency uncovered by newborn screening: clinical, biochemical, and molecular aspects. 24 6 56 61 54
20027113 2010
2
Phenotype and genotype variation in primary carnitine deficiency. 56 6 24 54
11715001 2001
3
Exclusive cardiac dysfunction in familial primary carnitine deficiency cases: a genotype-phenotype correlation. 6 56
17594400 2007
4
OCTN2 mutation (R254X) found in Saudi Arabian kindred: recurrent mutation or ancient founder mutation? 6 56
15303004 2004
5
Genetic epidemiology of the carnitine transporter OCTN2 gene in a Japanese population and phenotypic characterization in Japanese pedigrees with primary systemic carnitine deficiency. 24 56 54
10545605 1999
6
Primary systemic carnitine deficiency is caused by mutations in a gene encoding sodium ion-dependent carnitine transporter. 56 6
9916797 1999
7
Carnitine uptake defect: frameshift mutations in the human plasmalemmal carnitine transporter gene. 56 6
9826541 1998
8
Evidence for linkage of human primary systemic carnitine deficiency with D5S436: a novel gene locus on chromosome 5q. 56 6
9634512 1998
9
Dilated cardiomyopathy caused by plasma membrane carnitine transport defect. 6 56
9700603 1998
10
Impaired skin fibroblast carnitine uptake in primary systemic carnitine deficiency manifested by childhood carnitine-responsive cardiomyopathy. 56 6
2235122 1990
11
Successful carnitine treatment in two siblings having lipid storage myopathy with hypertrophic cardiomyopathy. 56 6
3974805 1985
12
Expanded newborn screening identifies maternal primary carnitine deficiency. 24 56
17126586 2007
13
Mutations of OCTN2, an organic cation/carnitine transporter, lead to deficient cellular carnitine uptake in primary carnitine deficiency. 61 54 6
10072434 1999
14
Systemic Primary Carnitine Deficiency 61 6
22420015 2012
15
Pharmacological rescue of carnitine transport in primary carnitine deficiency. 56 54
16652335 2006
16
A founder mutation (R254X) of SLC22A5 (OCTN2) in Chinese primary carnitine deficiency patients. 6 54
12204000 2002
17
Carnitine transporter OCTN2 mutations in systemic primary carnitine deficiency: a novel Arg169Gln mutation and a recurrent Arg282ter mutation associated with an unconventional splicing abnormality. 6 61
10425211 1999
18
Mutations in the organic cation/carnitine transporter OCTN2 in primary carnitine deficiency. 6 54
10051646 1999
19
Primary carnitine deficiency: novel mutations and insights into the cardiac phenotype. 56
23379544 2014
20
Systemic primary carnitine deficiency: an overview of clinical manifestations, diagnosis, and management. 61 24
22989098 2012
21
Molecular spectrum of SLC22A5 (OCTN2) gene mutations detected in 143 subjects evaluated for systemic carnitine deficiency. 61 24
20574985 2010
22
Validation of dye-binding/high-resolution thermal denaturation for the identification of mutations in the SLC22A5 gene. 6
15714519 2005
23
Novel OCTN2 mutations: no genotype-phenotype correlations: early carnitine therapy prevents cardiomyopathy. 56
12210323 2002
24
Functional analysis of mutations in the OCTN2 transporter causing primary carnitine deficiency: lack of genotype-phenotype correlation. 6
11058897 2000
25
Identification of two novel mutations in OCTN2 of three patients with systemic carnitine deficiency. 6
10480371 1999
26
Defective urinary carnitine transport in heterozygotes for primary carnitine deficiency. 56
11261427 1998
27
A missense mutation of mouse OCTN2, a sodium-dependent carnitine cotransporter, in the juvenile visceral steatosis mouse. 56
9837751 1998
28
Primary plasmalemmal carnitine transporter defect manifested with dicarboxylic aciduria and impaired fatty acid oxidation. 6
9700600 1998
29
Definition of the locus responsible for systemic carnitine deficiency within a 1.6-cM region of mouse chromosome 11 by detailed linkage analysis. 56
8660978 1996
30
Mapping of jvs (juvenile visceral steatosis) gene, which causes systemic carnitine deficiency in mice, on chromosome 11. 56
7626891 1995
31
Primary defect of juvenile visceral steatosis (jvs) mouse with systemic carnitine deficiency is probably in renal carnitine transport system. 56
8155735 1994
32
Cardiac hypertrophy in juvenile visceral steatosis (jvs) mice with systemic carnitine deficiency. 56
8325377 1993
33
Chronic cardiomyopathy and weakness or acute coma in children with a defect in carnitine uptake. 56
1763895 1991
34
Primary carnitine deficiency: heterozygote and intrafamilial phenotypic variation. 56
1922823 1991
35
Primary carnitine deficiency. 6
2199596 1990
36
Transport of carnitine into cells in hereditary carnitine deficiency. 56
2502670 1989
37
Cardiomyopathy associated with carnitine loss in kidneys and small intestine. 6
3215194 1988
38
Primary carnitine deficiency due to a failure of carnitine transport in kidney, muscle, and fibroblasts. 56
3185635 1988
39
Abnormalities of fatty acid oxidation. 56
3185637 1988
40
Hereditary defect in carnitine membrane transport is expressed in skin fibroblasts. 56
3181209 1988
41
Infantile disease with microvesicular fatty infiltration of viscera spontaneously occurring in the C3H-H-2(0) strain of mouse with similarities to Reye's syndrome. 56
3352223 1988
42
Familial systemic carnitine deficiency. 56
4062610 1985
43
Familial systemic carnitine deficiency. 56
6696649 1984
44
Systemic carnitine deficiency exacerbated by a strict vegetarian diet. 56
6703771 1984
45
Carnitine deficiency presenting as familial cardiomyopathy: a treatable defect in carnitine transport. 56
7131143 1982
46
Systemic carnitine deficiency presenting as familial endocardial fibroelastosis: a treatable cardiomyopathy. 56
7254270 1981
47
Primary systemic carnitine deficiency. II. Renal handling of carnitine. 56
7195503 1981
48
Primary systemic carnitine deficiency: I. Carnitine biosynthesis. 56
6787460 1981
49
Systemic carnitine deficiency--a treatable inherited lipid-storage disease presenting as Reye's syndrome. 56
7432384 1980
50
Systemic carnitine deficiency. 56
7432389 1980
51
Muscle carnitine deficiency and fatal cardiomyopathy. 56
563997 1978
52
The syndrome of systemic carnitine deficiency. Clinical, morphologic, biochemical, and pathophysiologic features. 56
234182 1975
53
Disorders of carnitine biosynthesis and transport. 24
26385306 2015
54
Gestational age and age at sampling influence metabolic profiles in premature infants. 24
24913786 2014
55
Carnitine levels in 26,462 individuals from the nationwide screening program for primary carnitine deficiency in the Faroe Islands. 24
23653224 2014
56
Genotype-phenotype correlation in primary carnitine deficiency. 24
21922592 2012
57
Primary Carnitine Deficiency Presents Atypically with Long QT Syndrome: A Case Report. 24
23430858 2012
58
Diagnoses of newborns and mothers with carnitine uptake defects through newborn screening. 24
20074989 2010
59
Role of carnitine in disease. 24
20398344 2010
60
Cardiomyopathy and carnitine deficiency. 24
18337137 2008
61
Carnitine membrane transporter deficiency: a rare treatable cause of cardiomyopathy and anemia. 24
17926086 2008
62
A case of early diagnosed carnitine deficiency presenting with respiratory symptoms. 24
17726310 2007
63
Disorders of carnitine transport and the carnitine cycle. 24
16602102 2006
64
Screening newborns for inborn errors of metabolism by tandem mass spectrometry. 24
12788994 2003
65
Silent and symptomatic primary carnitine deficiency within the same family due to identical mutations in the organic cation/carnitine transporter OCTN2. 24
14605509 2003
66
Primary carnitine deficiency with severe acute hepatitis following rotavirus gastroenteritis. 61
31189503 2019
67
First Case Report of Primary Carnitine Deficiency Manifested as Intellectual Disability and Autism Spectrum Disorder. 61
31200524 2019
68
A newborn with seizures born to a mother diagnosed with primary carnitine deficiency. 61
30885166 2019
69
SLC22A5 Mutations in a Patient With Systemic Primary Carnitine Deficiency and Cleft Palate-Successful Perioperative Management. 61
29750726 2018
70
Primary carnitine deficiency in a 57-year-old patient with recurrent exertional rhabdomyolysis. 61
29895548 2018
71
A case of atypical systemic primary carnitine deficiency in Saudi Arabia. 61
30069296 2018
72
Biochemical characteristics of newborns with carnitine transporter defect identified by newborn screening in California. 61
28711408 2017
73
[Mutational analysis of SLC22A5 gene in eight patients with systemic primary carnitine deficiency]. 61
28186590 2017
74
Primary Carnitine Deficiency - A Rare Treatable Cause of Cardiomyopathy and Massive Hepatomegaly. 61
27581592 2017
75
Systemic primary carnitine deficiency with hypoglycemic encephalopathy. 61
28164076 2016
76
Primary systemic carnitine deficiency: a Turkish case with a novel homozygous SLC22A5 mutation and 14 years follow-up. 61
26030785 2015
77
Analysis of genetic mutations in Chinese patients with systemic primary carnitine deficiency. 61
25132046 2014
78
SLC22A5 mutations in a patient with systemic primary carnitine deficiency: the first Korean case confirmed by biochemical and molecular investigation. 61
23090741 2012
79
Cardiac conduction improvement in two heterozygotes for primary carnitine deficiency on L-carnitine supplementation. 61
20095986 2010
80
Deficiency of the carnitine transporter (OCTN2) with partial N-acetylglutamate synthase (NAGS) deficiency. 54
17703373 2007
81
Functional genetic diversity in the high-affinity carnitine transporter OCTN2 (SLC22A5). 54
16931768 2006
82
Expression and distribution of OCTN2 in mouse epididymis and its association with obstructive azoospermia in juvenile visceral steatosis mice. 54
16734862 2006
83
[The human OCTN2 carnitine transporter and its mutations]. 54
15125318 2004
84
[Biopharmaceutical studies on molecular mechanisms of membrane transport]. 54
12510384 2002
85
Identification of two novel mutations in OCTN2 from two Saudi patients with systemic carnitine deficiency. 54
12408185 2002
86
Mitochondrial fatty acid oxidation disorders in Thai infants: a report of 3 cases. 61
12403251 2002
87
Two novel missense mutations of the OCTN2 gene (W283R and V446F) in a patient with primary systemic carnitine deficiency. 54
10612840 2000
88
Mutations in novel organic cation transporter (OCTN2), an organic cation/carnitine transporter, with differential effects on the organic cation transport function and the carnitine transport function. 54
10559218 1999
89
Characteristics of L-carnitine transport in cultured human hepatoma HLF cells. 54
10504033 1999

Variations for Carnitine Deficiency, Systemic Primary

ClinVar genetic disease variations for Carnitine Deficiency, Systemic Primary:

6 (showing 310, show less) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SLC22A5 SLC22A5, IVS8AS, G-A, -1SNV Pathogenic 6412
2 SLC22A5 SLC22A5, 1394-BP DELdeletion Pathogenic 6413
3 SLC22A5 NM_003060.4(SLC22A5):c.653_654insTATGGCCATCAGGTTGGAG (p.Thr219fs)insertion Pathogenic 6414
4 SLC22A5 NM_003060.3:c.654_825deldeletion Pathogenic 6415
5 SLC22A5 NM_003060.4(SLC22A5):c.844C>T (p.Arg282Ter)SNV Pathogenic 6416 rs121908886 5:131722736-131722736 5:132387044-132387044
6 SLC22A5 SLC22A5, 113-BP DELdeletion Pathogenic 6409
7 SLC22A5 SLC22A5, 1-BP INS, 226Cinsertion Pathogenic 6410
8 SLC22A5 NM_003060.4(SLC22A5):c.1304del (p.Gly435fs)deletion Pathogenic 6418 rs386134217 5:131728161-131728161 5:132392469-132392469
9 SLC22A5 NM_003060.4(SLC22A5):c.1433C>T (p.Pro478Leu)SNV Pathogenic 6419 rs72552735 5:131728290-131728290 5:132392598-132392598
10 SLC22A5 NM_003060.4(SLC22A5):c.1051T>C (p.Trp351Arg)SNV Pathogenic 6423 rs68018207 5:131724712-131724712 5:132389020-132389020
11 SLC22A5 NM_003060.4(SLC22A5):c.1196G>A (p.Arg399Gln)SNV Pathogenic 6424 rs121908891 5:131726525-131726525 5:132390833-132390833
12 SLC22A5 NM_003060.4(SLC22A5):c.760C>T (p.Arg254Ter)SNV Pathogenic 6426 rs121908893 5:131721127-131721127 5:132385435-132385435
13 SLC22A5 NM_003060.4(SLC22A5):c.1412G>A (p.Arg471His)SNV Pathogenic 25426 rs386134223 5:131728269-131728269 5:132392577-132392577
14 SLC22A5 NM_003060.4(SLC22A5):c.254_264dup (p.Ile89fs)duplication Pathogenic 38790 rs377767449 5:131705918-131705928 5:132370226-132370236
15 SLC22A5 NM_003060.4(SLC22A5):c.1365dup (p.Thr456fs)duplication Pathogenic 236194 rs878853248 5:131728222-131728222 5:132392530-132392530
16 SLC22A5 NM_003060.4(SLC22A5):c.1252C>T (p.Gln418Ter)SNV Pathogenic 373229 rs1057518297 5:131726581-131726581 5:132390889-132390889
17 SLC22A5 NM_003060.4(SLC22A5):c.1188T>G (p.Tyr396Ter)SNV Pathogenic 375238 rs1057519051 5:131726517-131726517 5:132390825-132390825
18 SLC22A5 NM_003060.4(SLC22A5):c.755del (p.Phe252fs)deletion Pathogenic 460413 rs1554087491 5:131721122-131721122 5:132385430-132385430
19 SLC22A5 NM_003060.4(SLC22A5):c.361C>T (p.Gln121Ter)SNV Pathogenic 522874 rs1554086010 5:131706025-131706025 5:132370333-132370333
20 SLC22A5 NC_000005.9:g.(?_131719819)_(131728327_?)deldeletion Pathogenic 649071 5:131719819-131728327 5:132384127-132392635
21 SLC22A5 NM_003060.4(SLC22A5):c.1411C>T (p.Arg471Cys)SNV Pathogenic 460398 rs749282641 5:131728268-131728268 5:132392576-132392576
22 SLC22A5 NM_003060.4(SLC22A5):c.881del (p.Glu294fs)deletion Pathogenic 460418 rs1554087719 5:131722773-131722773 5:132387081-132387081
23 SLC22A5 NM_003060.4(SLC22A5):c.1172G>A (p.Trp391Ter)SNV Pathogenic 460392 rs1554088165 5:131726501-131726501 5:132390809-132390809
24 SLC22A5 NM_003060.4(SLC22A5):c.845G>A (p.Arg282Gln)SNV Pathogenic 25401 rs386134210 5:131722737-131722737 5:132387045-132387045
25 SLC22A5 NM_003060.4(SLC22A5):c.844del (p.Arg282fs)deletion Pathogenic 25399 rs386134209 5:131722731-131722731 5:132387039-132387039
26 SLC22A5 NM_003060.4(SLC22A5):c.865C>T (p.Arg289Ter)SNV Pathogenic 25404 rs386134212 5:131722757-131722757 5:132387065-132387065
27 SLC22A5 NM_003060.4(SLC22A5):c.652+1G>ASNV Pathogenic 25381 rs386134200 5:131719994-131719994 5:132384302-132384302
28 SLC22A5 NM_003060.4(SLC22A5):c.95A>G (p.Asn32Ser)SNV Pathogenic 25355 rs72552725 5:131705759-131705759 5:132370067-132370067
29 SLC22A5 NM_003060.4(SLC22A5):c.64_66TTC[1] (p.Phe23del)short repeat Pathogenic 25353 rs377767444 5:131705731-131705733 5:132370039-132370041
30 SLC22A5 NM_003060.4(SLC22A5):c.12C>G (p.Tyr4Ter)SNV Pathogenic 25347 rs72552722 5:131705676-131705676 5:132369984-132369984
31 SLC22A5 NM_003060.4(SLC22A5):c.1158del (p.Tyr387fs)deletion Pathogenic 645158 5:131726487-131726487 5:132390795-132390795
32 SLC22A5 NM_003060.4(SLC22A5):c.845dup (p.Trp283fs)duplication Pathogenic 659511 5:131722737-131722737 5:132387045-132387045
33 SLC22A5 NM_003060.4(SLC22A5):c.51C>G (p.Phe17Leu)SNV Pathogenic/Likely pathogenic 25350 rs11568520 5:131705715-131705715 5:132370023-132370023
34 SLC22A5 NM_003060.4(SLC22A5):c.424G>T (p.Ala142Ser)SNV Pathogenic/Likely pathogenic 25372 rs151231558 5:131714100-131714100 5:132378408-132378408
35 SLC22A5 NM_003060.4(SLC22A5):c.248G>T (p.Arg83Leu)SNV Pathogenic/Likely pathogenic 25361 rs72552726 5:131705912-131705912 5:132370220-132370220
36 SLC22A5 NM_003060.4(SLC22A5):c.806del (p.Leu269fs)deletion Pathogenic/Likely pathogenic 25392 rs386134204 5:131721173-131721173 5:132385481-132385481
37 SLC22A5 NM_003060.4(SLC22A5):c.695C>T (p.Thr232Met)SNV Pathogenic/Likely pathogenic 25386 rs114269482 5:131721062-131721062 5:132385370-132385370
38 SLC22A5 NM_003060.4(SLC22A5):c.456_457TG[1] (p.Val153fs)short repeat Pathogenic/Likely pathogenic 25376 rs386134195 5:131714134-131714135 5:132378442-132378443
39 SLC22A5 NM_003060.4(SLC22A5):c.1340A>G (p.Tyr447Cys)SNV Pathogenic/Likely pathogenic 25418 rs386134218 5:131728197-131728197 5:132392505-132392505
40 SLC22A5 NM_003060.4(SLC22A5):c.1319C>T (p.Thr440Met)SNV Pathogenic/Likely pathogenic 25416 rs72552732 5:131728176-131728176 5:132392484-132392484
41 SLC22A5 NM_003060.4(SLC22A5):c.1193C>T (p.Pro398Leu)SNV Pathogenic/Likely pathogenic 25411 rs144547521 5:131726522-131726522 5:132390830-132390830
42 SLC22A5 NM_003060.4(SLC22A5):c.1175_1177TGC[2] (p.Leu394del)short repeat Pathogenic/Likely pathogenic 25410 rs386134215 5:131726510-131726512 5:132390818-132390820
43 SLC22A5 NM_003060.4(SLC22A5):c.71del (p.Leu24fs)deletion Pathogenic/Likely pathogenic 423731 rs775502377 5:131705735-131705735 5:132370043-132370043
44 SLC22A5 NM_003060.4(SLC22A5):c.680G>A (p.Arg227His)SNV Pathogenic/Likely pathogenic 378583 rs185551386 5:131721047-131721047 5:132385355-132385355
45 SLC22A5 NM_003060.4(SLC22A5):c.338G>A (p.Cys113Tyr)SNV Pathogenic/Likely pathogenic 167696 rs727504159 5:131706002-131706002 5:132370310-132370310
46 SLC22A5 NM_003060.4(SLC22A5):c.136C>T (p.Pro46Ser)SNV Pathogenic/Likely pathogenic 193250 rs202088921 5:131705800-131705800 5:132370108-132370108
47 SLC22A5 NM_003060.4(SLC22A5):c.1400C>G (p.Ser467Cys)SNV Pathogenic/Likely pathogenic 25423 rs60376624 5:131728257-131728257 5:132392565-132392565
48 SLC22A5 NM_003060.4(SLC22A5):c.1556_1557AC[4] (p.Ile521fs)short repeat Pathogenic/Likely pathogenic 25429 rs386134225 5:131729473-131729476 5:132393781-132393784
49 SLC22A5 NM_003060.4(SLC22A5):c.1195C>T (p.Arg399Trp)SNV Pathogenic/Likely pathogenic 6427 rs267607054 5:131726524-131726524 5:132390832-132390832
50 SLC22A5 NM_003060.4(SLC22A5):c.1324_1325delinsAT (p.Ala442Ile)indel Pathogenic/Likely pathogenic 6428 rs267607053 5:131728181-131728182 5:132392489-132392490
51 SLC22A5 NM_003060.4(SLC22A5):c.43G>T (p.Gly15Trp)SNV Pathogenic/Likely pathogenic 6429 rs267607052 5:131705707-131705707 5:132370015-132370015
52 SLC22A5 NM_003060.4(SLC22A5):c.506G>A (p.Arg169Gln)SNV Pathogenic/Likely pathogenic 6421 rs121908889 5:131719847-131719847 5:132384155-132384155
53 SLC22A5 NM_003060.4(SLC22A5):c.505C>T (p.Arg169Trp)SNV Pathogenic/Likely pathogenic 6422 rs121908890 5:131719846-131719846 5:132384154-132384154
54 SLC22A5 NM_003060.4(SLC22A5):c.396G>A (p.Trp132Ter)SNV Pathogenic/Likely pathogenic 6411 rs72552727 5:131714072-131714072 5:132378380-132378380
55 SLC22A5 NM_003060.3(SLC22A5):c.1202dupA (p.Tyr401Terfs)duplication Pathogenic/Likely pathogenic 6417 rs121908887 5:131726531-131726531 5:132390839-132390839
56 SLC22A5 NM_003060.4(SLC22A5):c.632A>G (p.Tyr211Cys)SNV Likely pathogenic 6420 rs121908888 5:131719973-131719973 5:132384281-132384281
57 SLC22A5 NM_003060.4(SLC22A5):c.3G>T (p.Met1Ile)SNV Likely pathogenic 6425 rs121908892 5:131705667-131705667 5:132369975-132369975
58 SLC22A5 NM_003060.4(SLC22A5):c.1403C>G (p.Thr468Arg)SNV Likely pathogenic 25424 rs386134221 5:131728260-131728260 5:132392568-132392568
59 SLC22A5 NM_003060.4(SLC22A5):c.1451-1G>ASNV Likely pathogenic 25428 rs386134224 5:131729367-131729367 5:132393675-132393675
60 SLC22A5 NM_003060.4(SLC22A5):c.148del (p.Cys50fs)deletion Likely pathogenic 38795 rs386134227 5:131705812-131705812 5:132370120-132370120
61 SLC22A5 NM_003060.4(SLC22A5):c.659A>T (p.Glu220Val)SNV Likely pathogenic 236195 rs878853249 5:131721026-131721026 5:132385334-132385334
62 SLC22A5 NM_003060.4(SLC22A5):c.160_166dup (p.Ala56fs)duplication Likely pathogenic 370825 rs1057516797 5:131705824-131705830 5:132370132-132370138
63 SLC22A5 NM_003060.4(SLC22A5):c.393+1G>ASNV Likely pathogenic 371182 rs1057517069 5:131706058-131706058 5:132370366-132370366
64 SLC22A5 NM_003060.4(SLC22A5):c.394-1G>TSNV Likely pathogenic 371227 rs1057517106 5:131714069-131714069 5:132378377-132378377
65 SLC22A5 NM_003060.4(SLC22A5):c.491C>G (p.Ser164Ter)SNV Likely pathogenic 370784 rs1057516765 5:131714167-131714167 5:132378475-132378475
66 SLC22A5 NM_003060.4(SLC22A5):c.498-1G>CSNV Likely pathogenic 370409 rs747592919 5:131719838-131719838 5:132384146-132384146
67 SLC22A5 NM_003060.4(SLC22A5):c.825-1G>CSNV Likely pathogenic 370837 rs1057516805 5:131722716-131722716 5:132387024-132387024
68 SLC22A5 NM_003060.4(SLC22A5):c.1455dup (p.Tyr486fs)duplication Likely pathogenic 371479 rs1057517306 5:131729372-131729372 5:132393680-132393680
69 SLC22A5 NM_003060.4(SLC22A5):c.1458C>G (p.Tyr486Ter)SNV Likely pathogenic 370131 rs763224132 5:131729375-131729375 5:132393683-132393683
70 SLC22A5 NM_003060.4(SLC22A5):c.1547del (p.Pro516fs)deletion Likely pathogenic 370975 rs761090705 5:131729464-131729464 5:132393772-132393772
71 SLC22A5 NM_003060.4(SLC22A5):c.1587-2A>GSNV Likely pathogenic 370325 rs1057516402 5:131729875-131729875 5:132394183-132394183
72 SLC22A5 NM_003060.4(SLC22A5):c.1587-1G>CSNV Likely pathogenic 371383 rs766398620 5:131729876-131729876 5:132394184-132394184
73 SLC22A5 NM_003060.4(SLC22A5):c.428C>T (p.Pro143Leu)SNV Likely pathogenic 440273 rs1178584184 5:131714104-131714104 5:132378412-132378412
74 SLC22A5 NM_003060.4(SLC22A5):c.13del (p.Asp5fs)deletion Likely pathogenic 550591 rs1554085892 5:131705676-131705677 5:132369985-132369985
75 SLC22A5 NM_003060.4(SLC22A5):c.52del (p.Gln18fs)deletion Likely pathogenic 558416 rs1022453298 5:131705714-131705715 5:132370024-132370024
76 SLC22A5 NM_003060.4(SLC22A5):c.391G>T (p.Glu131Ter)SNV Likely pathogenic 550619 rs1321705165 5:131706055-131706055 5:132370363-132370363
77 SLC22A5 NM_003060.4(SLC22A5):c.1250dup (p.Met417fs)duplication Likely pathogenic 503649 rs781330134 5:131726579-131726579 5:132390887-132390887
78 SLC22A5 NM_003060.4(SLC22A5):c.614T>G (p.Met205Arg)SNV Likely pathogenic 522551 rs796052033 5:131719955-131719955 5:132384263-132384263
79 SLC22A5 NM_003060.4(SLC22A5):c.1052+1G>TSNV Likely pathogenic 550527 rs1554087949 5:131724714-131724714 5:132389022-132389022
80 SLC22A5 NM_003060.4(SLC22A5):c.1267+1G>ASNV Likely pathogenic 550338 rs1554088200 5:131726597-131726597 5:132390905-132390905
81 SLC22A5 NM_003060.4(SLC22A5):c.1554del (p.Asp519fs)deletion Likely pathogenic 551727 rs1554088578 5:131729470-131729471 5:132393779-132393779
82 SLC22A5 NM_003060.4(SLC22A5):c.952-2A>GSNV Likely pathogenic 551129 rs1554087913 5:131724611-131724611 5:132388919-132388919
83 SLC22A5 NM_003060.4(SLC22A5):c.252C>G (p.Tyr84Ter)SNV Likely pathogenic 554074 rs1253026669 5:131705916-131705916 5:132370224-132370224
84 SLC22A5 NM_003060.4(SLC22A5):c.137del (p.Pro46fs)deletion Likely pathogenic 556939 rs762986044 5:131705797-131705798 5:132370109-132370109
85 SLC22A5 NM_003060.4(SLC22A5):c.1A>T (p.Met1Leu)SNV Likely pathogenic 554767 rs774971089 5:131705665-131705665 5:132369973-132369973
86 SLC22A5 NM_003060.4(SLC22A5):c.1458C>A (p.Tyr486Ter)SNV Likely pathogenic 552256 rs763224132 5:131729375-131729375 5:132393683-132393683
87 SLC22A5 NM_003060.4(SLC22A5):c.394-141T>CSNV Likely pathogenic 587622 rs1561566541 5:131713929-131713929 5:132378237-132378237
88 SLC22A5 NM_003060.4(SLC22A5):c.252_265dup (p.Ile89fs)duplication Likely pathogenic 555364 rs1554085973 5:131705914-131705914 5:132370224-132370237
89 SLC22A5 NM_003060.4(SLC22A5):c.1A>G (p.Met1Val)SNV Likely pathogenic 553595 rs774971089 5:131705665-131705665 5:132369973-132369973
90 SLC22A5 NM_003060.4(SLC22A5):c.185G>A (p.Trp62Ter)SNV Likely pathogenic 557956 rs1554085942 5:131705849-131705849 5:132370157-132370157
91 SLC22A5 NM_003060.4(SLC22A5):c.2T>G (p.Met1Arg)SNV Likely pathogenic 556750 rs1554085885 5:131705666-131705666 5:132369974-132369974
92 SLC22A5 NM_003060.4(SLC22A5):c.453G>A (p.Val151=)SNV Likely pathogenic 25375 rs386134194 5:131714129-131714129 5:132378437-132378437
93 SLC22A5 NM_003060.4(SLC22A5):c.653-2A>CSNV Likely pathogenic 25384 rs386134201 5:131721018-131721018 5:132385326-132385326
94 SLC22A5 NM_003060.4(SLC22A5):c.-91_22del (p.Met1fs)deletion Likely pathogenic 25341 rs1554085861 5:131705574-131705686 5:132369882-132369994
95 SLC22A5 NM_003060.4(SLC22A5):c.414C>T (p.Asp138=)SNV Conflicting interpretations of pathogenicity 25377 rs150705788 5:131714090-131714090 5:132378398-132378398
96 SLC22A5 NM_003060.4(SLC22A5):c.451G>A (p.Val151Met)SNV Conflicting interpretations of pathogenicity 25374 rs386134193 5:131714127-131714127 5:132378435-132378435
97 SLC22A5 NM_003060.4(SLC22A5):c.364G>T (p.Asp122Tyr)SNV Conflicting interpretations of pathogenicity 25371 rs201082652 5:131706028-131706028 5:132370336-132370336
98 SLC22A5 NM_003060.4(SLC22A5):c.56G>C (p.Arg19Pro)SNV Conflicting interpretations of pathogenicity 25351 rs72552723 5:131705720-131705720 5:132370028-132370028
99 SLC22A5 NM_003060.4(SLC22A5):c.455G>A (p.Gly152Asp)SNV Conflicting interpretations of pathogenicity 460408 rs747821417 5:131714131-131714131 5:132378439-132378439
100 SLC22A5 NM_003060.4(SLC22A5):c.394-16T>ASNV Conflicting interpretations of pathogenicity 460407 rs775097754 5:131714054-131714054 5:132378362-132378362
101 SLC22A5 NM_003060.4(SLC22A5):c.1078_1083dup (p.Gly360_Leu361dup)duplication Conflicting interpretations of pathogenicity 372506 rs896634334 5:131726407-131726412 5:132390715-132390720
102 SLC22A5 NM_003060.4(SLC22A5):c.1377A>G (p.Arg459=)SNV Conflicting interpretations of pathogenicity 350817 rs142264458 5:131728234-131728234 5:132392542-132392542
103 SLC22A5 NM_003060.4(SLC22A5):c.523G>A (p.Val175Met)SNV Conflicting interpretations of pathogenicity 285602 rs781721860 5:131719864-131719864 5:132384172-132384172
104 SLC22A5 NM_003060.4(SLC22A5):c.1354G>A (p.Glu452Lys)SNV Conflicting interpretations of pathogenicity 25421 rs72552734 5:131728211-131728211 5:132392519-132392519
105 SLC22A5 NM_003060.4(SLC22A5):c.1345T>G (p.Tyr449Asp)SNV Conflicting interpretations of pathogenicity 25420 rs11568514 5:131728202-131728202 5:132392510-132392510
106 SLC22A5 NM_003060.4(SLC22A5):c.1185A>G (p.Gln395=)SNV Conflicting interpretations of pathogenicity 510740 rs916795176 5:131726514-131726514 5:132390822-132390822
107 SLC22A5 NM_003060.4(SLC22A5):c.1052+5G>ASNV Conflicting interpretations of pathogenicity 429518 rs927950152 5:131724718-131724718 5:132389026-132389026
108 SLC22A5 NM_003060.4(SLC22A5):c.529A>G (p.Met177Val)SNV Conflicting interpretations of pathogenicity 379230 rs145068530 5:131719870-131719870 5:132384178-132384178
109 SLC22A5 NM_003060.4(SLC22A5):c.1463G>A (p.Arg488His)SNV Conflicting interpretations of pathogenicity 38794 rs28383481 5:131729380-131729380 5:132393688-132393688
110 SLC22A5 NM_003060.4(SLC22A5):c.641C>T (p.Ala214Val)SNV Conflicting interpretations of pathogenicity 38279 rs386134199 5:131719982-131719982 5:132384290-132384290
111 SLC22A5 NM_003060.4(SLC22A5):c.1409C>T (p.Ser470Phe)SNV Conflicting interpretations of pathogenicity 25425 rs386134222 5:131728266-131728266 5:132392574-132392574
112 SLC22A5 NM_003060.4(SLC22A5):c.557T>C (p.Leu186Pro)SNV Uncertain significance 38287 rs386134197 5:131719898-131719898 5:132384206-132384206
113 SLC22A5 NM_003060.4(SLC22A5):c.522C>T (p.Phe174=)SNV Uncertain significance 350812 rs145350949 5:131719863-131719863 5:132384171-132384171
114 SLC22A5 NM_003060.4(SLC22A5):c.952-14T>CSNV Uncertain significance 350814 rs373018486 5:131724599-131724599 5:132388907-132388907
115 SLC22A5 NM_003060.4(SLC22A5):c.*484G>ASNV Uncertain significance 350824 rs760545883 5:131730448-131730448 5:132394756-132394756
116 SLC22A5 NM_003060.4(SLC22A5):c.-118G>ASNV Uncertain significance 350808 rs538643468 5:131705547-131705547 5:132369855-132369855
117 SLC22A5 NM_003060.4(SLC22A5):c.1120G>A (p.Val374Met)SNV Uncertain significance 350816 rs886059909 5:131726449-131726449 5:132390757-132390757
118 SLC22A5 NM_003060.4(SLC22A5):c.*654G>CSNV Uncertain significance 350825 rs886059913 5:131730618-131730618 5:132394926-132394926
119 SLC22A5 NM_003060.4(SLC22A5):c.614T>A (p.Met205Lys)SNV Uncertain significance 203925 rs796052033 5:131719955-131719955 5:132384263-132384263
120 SLC22A5 NM_003060.4(SLC22A5):c.1451G>T (p.Gly484Val)SNV Uncertain significance 203931 rs28383480 5:131729368-131729368 5:132393676-132393676
121 SLC22A5 NM_003060.4(SLC22A5):c.1085C>T (p.Ser362Leu)SNV Uncertain significance 281066 rs886042092 5:131726414-131726414 5:132390722-132390722
122 SLC22A5 NM_003060.4(SLC22A5):c.-25C>TSNV Uncertain significance 350811 rs886059907 5:131705640-131705640 5:132369948-132369948
123 SLC22A5 NM_003060.4(SLC22A5):c.763G>A (p.Asp255Asn)SNV Uncertain significance 350813 rs774619135 5:131721130-131721130 5:132385438-132385438
124 SLC22A5 NM_003060.4(SLC22A5):c.980A>C (p.Gln327Pro)SNV Uncertain significance 350815 rs886059908 5:131724641-131724641 5:132388949-132388949
125 SLC22A5 NM_003060.4(SLC22A5):c.*5G>ASNV Uncertain significance 350819 rs554373076 5:131729969-131729969 5:132394277-132394277
126 SLC22A5 NM_003060.4(SLC22A5):c.*195G>TSNV Uncertain significance 350821 rs886059910 5:131730159-131730159 5:132394467-132394467
127 SLC22A5 NM_003060.4(SLC22A5):c.*417T>ASNV Uncertain significance 350822 rs886059911 5:131730381-131730381 5:132394689-132394689
128 SLC22A5 NM_003060.4(SLC22A5):c.*424T>CSNV Uncertain significance 350823 rs886059912 5:131730388-131730388 5:132394696-132394696
129 SLC22A5 NM_003060.4(SLC22A5):c.*678G>TSNV Uncertain significance 350826 rs148673968 5:131730642-131730642 5:132394950-132394950
130 SLC22A5 NM_003060.4(SLC22A5):c.592G>A (p.Val198Met)SNV Uncertain significance 460409 rs757979350 5:131719933-131719933 5:132384241-132384241
131 SLC22A5 NM_003060.4(SLC22A5):c.272A>G (p.Asn91Ser)SNV Uncertain significance 460405 rs546442503 5:131705936-131705936 5:132370244-132370244
132 SLC22A5 NM_003060.4(SLC22A5):c.818T>C (p.Leu273Pro)SNV Uncertain significance 460417 rs760320629 5:131721185-131721185 5:132385493-132385493
133 SLC22A5 NM_003060.4(SLC22A5):c.865_867del (p.Arg289del)deletion Uncertain significance 552381 rs1554087707 5:131722754-131722757 5:132387065-132387067
134 SLC22A5 NM_003060.4(SLC22A5):c.791C>T (p.Thr264Met)SNV Uncertain significance 529846 rs201262157 5:131721158-131721158 5:132385466-132385466
135 SLC22A5 NM_003060.4(SLC22A5):c.939T>A (p.Phe313Leu)SNV Uncertain significance 529853 rs1554087737 5:131722831-131722831 5:132387139-132387139
136 SLC22A5 NM_003060.4(SLC22A5):c.800G>A (p.Gly267Glu)SNV Uncertain significance 555629 rs775430253 5:131721167-131721167 5:132385475-132385475
137 SLC22A5 NM_003060.4(SLC22A5):c.412_414GAC[1] (p.Asp139del)short repeat Uncertain significance 551098 rs1554086841 5:131714087-131714090 5:132378399-132378401
138 SLC22A5 NM_003060.4(SLC22A5):c.1267+3_1267+24deldeletion Uncertain significance 552220 rs1554088199 5:131726595-131726617 5:132390907-132390928
139 SLC22A5 NM_003060.4(SLC22A5):c.1674A>C (p.Ter558Tyr)SNV Uncertain significance 558004 rs1554088647 5:131729964-131729964 5:132394272-132394272
140 SLC22A5 NM_003060.4(SLC22A5):c.119T>A (p.Val40Glu)SNV Uncertain significance 575689 rs1561560593 5:131705783-131705783 5:132370091-132370091
141 SLC22A5 NM_003060.4(SLC22A5):c.131C>T (p.Ala44Val)SNV Uncertain significance 573546 5:131705795-131705795 5:132370103-132370103
142 SLC22A5 NM_003060.4(SLC22A5):c.415G>A (p.Asp139Asn)SNV Uncertain significance 581208 5:131714091-131714091 5:132378399-132378399
143 SLC22A5 NM_003060.4(SLC22A5):c.1255C>G (p.Leu419Val)SNV Uncertain significance 574461 5:131726584-131726584 5:132390892-132390892
144 SLC22A5 NM_003060.4(SLC22A5):c.39G>C (p.Glu13Asp)SNV Uncertain significance 579814 rs1561560357 5:131705703-131705703 5:132370011-132370011
145 SLC22A5 NM_003060.4(SLC22A5):c.122T>G (p.Phe41Cys)SNV Uncertain significance 575694 rs1335556134 5:131705786-131705786 5:132370094-132370094
146 SLC22A5 NM_003060.4(SLC22A5):c.247C>T (p.Arg83Cys)SNV Uncertain significance 578671 5:131705911-131705911 5:132370219-132370219
147 SLC22A5 NM_003060.4(SLC22A5):c.892C>T (p.Arg298Cys)SNV Uncertain significance 581353 5:131722784-131722784 5:132387092-132387092
148 SLC22A5 NM_003060.4(SLC22A5):c.1453G>A (p.Ala485Thr)SNV Uncertain significance 568045 5:131729370-131729370 5:132393678-132393678
149 SLC22A5 NM_003060.4(SLC22A5):c.1660A>G (p.Ser554Gly)SNV Uncertain significance 582487 rs1561577867 5:131729950-131729950 5:132394258-132394258
150 SLC22A5 NM_003060.4(SLC22A5):c.1267+5G>ASNV Uncertain significance 639592 5:131726601-131726601 5:132390909-132390909
151 SLC22A5 NM_003060.4(SLC22A5):c.967T>C (p.Ser323Pro)SNV Uncertain significance 569572 rs1561574073 5:131724628-131724628 5:132388936-132388936
152 SLC22A5 NM_003060.4(SLC22A5):c.875A>T (p.Glu292Val)SNV Uncertain significance 575908 5:131722767-131722767 5:132387075-132387075
153 SLC22A5 NM_003060.4(SLC22A5):c.447C>G (p.Phe149Leu)SNV Uncertain significance 581072 5:131714123-131714123 5:132378431-132378431
154 SLC22A5 NM_003060.4(SLC22A5):c.265A>G (p.Ile89Val)SNV Uncertain significance 567955 5:131705929-131705929 5:132370237-132370237
155 SLC22A5 NM_003060.4(SLC22A5):c.242G>A (p.Cys81Tyr)SNV Uncertain significance 570148 rs1561560884 5:131705906-131705906 5:132370214-132370214
156 SLC22A5 NM_003060.4(SLC22A5):c.1036A>G (p.Met346Val)SNV Uncertain significance 580674 5:131724697-131724697 5:132389005-132389005
157 SLC22A5 NM_003060.4(SLC22A5):c.990_1016del (p.Leu332_Ile340del)deletion Uncertain significance 566808 rs1561574113 5:131724651-131724677 5:132388959-132388985
158 SLC22A5 NM_003060.4(SLC22A5):c.811G>A (p.Val271Met)SNV Uncertain significance 579761 5:131721178-131721178 5:132385486-132385486
159 SLC22A5 NM_003060.4(SLC22A5):c.706T>C (p.Cys236Arg)SNV Uncertain significance 575922 5:131721073-131721073 5:132385381-132385381
160 SLC22A5 NM_003060.4(SLC22A5):c.692C>G (p.Ser231Cys)SNV Uncertain significance 581634 5:131721059-131721059 5:132385367-132385367
161 SLC22A5 NM_003060.4(SLC22A5):c.687_689del (p.Phe230del)deletion Uncertain significance 579832 rs1173523095 5:131721054-131721056 5:132385362-132385364
162 SLC22A5 NM_003060.4(SLC22A5):c.538C>G (p.Gln180Glu)SNV Uncertain significance 576364 rs1437174685 5:131719879-131719879 5:132384187-132384187
163 SLC22A5 NM_003060.4(SLC22A5):c.40T>A (p.Trp14Arg)SNV Uncertain significance 580421 5:131705704-131705704 5:132370012-132370012
164 SLC22A5 NM_003060.4(SLC22A5):c.1139C>T (p.Ala380Val)SNV Uncertain significance 553624 rs746187344 5:131726468-131726468 5:132390776-132390776
165 SLC22A5 NM_003060.4(SLC22A5):c.393+5G>ASNV Uncertain significance 550011 rs1554086029 5:131706062-131706062 5:132370370-132370370
166 SLC22A5 NM_003060.4(SLC22A5):c.629A>G (p.Asn210Ser)SNV Uncertain significance 38276 rs386134198 5:131719970-131719970 5:132384278-132384278
167 SLC22A5 NM_003060.4(SLC22A5):c.-30G>CSNV Uncertain significance 350810 rs758034537 5:131705635-131705635 5:132369943-132369943
168 SLC22A5 NM_003060.4(SLC22A5):c.*1244C>TSNV Uncertain significance 350836 rs184494469 5:131731208-131731208 5:132395516-132395516
169 SLC22A5 NM_003060.4(SLC22A5):c.*1020C>GSNV Uncertain significance 350832 rs886059915 5:131730984-131730984 5:132395292-132395292
170 SLC22A5 NM_003060.4(SLC22A5):c.*960dupduplication Uncertain significance 350828 rs869272980 5:131730924-131730924 5:132395232-132395232
171 SLC22A5 NM_003060.4(SLC22A5):c.*956_*957insTAinsertion Uncertain significance 350829 rs746348980 5:131730920-131730921 5:132395228-132395229
172 SLC22A5 NM_003060.4(SLC22A5):c.*1214G>ASNV Uncertain significance 350835 rs529124788 5:131731178-131731178 5:132395486-132395486
173 SLC22A5 NM_003060.4(SLC22A5):c.*957A>TSNV Uncertain significance 350830 rs200950736 5:131730921-131730921 5:132395229-132395229
174 SLC22A5 NM_003060.4(SLC22A5):c.*1062G>ASNV Uncertain significance 350833 rs138469584 5:131731026-131731026 5:132395334-132395334
175 SLC22A5 NM_003060.4(SLC22A5):c.1587-11T>GSNV Uncertain significance 350818 rs772775759 5:131729866-131729866 5:132394174-132394174
176 SLC22A5 NM_003060.4(SLC22A5):c.1088T>C (p.Leu363Pro)SNV Uncertain significance 25408 rs386134214 5:131726417-131726417 5:132390725-132390725
177 SLC22A5 NM_003060.4(SLC22A5):c.1043T>C (p.Ile348Thr)SNV Uncertain significance 25407 rs150544263 5:131724704-131724704 5:132389012-132389012
178 SLC22A5 NM_003060.4(SLC22A5):c.692C>T (p.Ser231Phe)SNV Uncertain significance 25396 rs386134206 5:131721059-131721059 5:132385367-132385367
179 SLC22A5 NM_003060.4(SLC22A5):c.1142T>C (p.Met381Thr)SNV Uncertain significance 460391 rs149730454 5:131726471-131726471 5:132390779-132390779
180 SLC22A5 NM_003060.4(SLC22A5):c.944C>T (p.Pro315Leu)SNV Uncertain significance 460421 rs200697217 5:131722836-131722836 5:132387144-132387144
181 SLC22A5 NM_003060.4(SLC22A5):c.791C>G (p.Thr264Arg)SNV Uncertain significance 460416 rs201262157 5:131721158-131721158 5:132385466-132385466
182 SLC22A5 NM_003060.4(SLC22A5):c.688T>C (p.Phe230Leu)SNV Uncertain significance 460412 rs756650860 5:131721055-131721055 5:132385363-132385363
183 SLC22A5 NM_003060.4(SLC22A5):c.653-10T>ASNV Uncertain significance 460411 rs765335540 5:131721010-131721010 5:132385318-132385318
184 SLC22A5 NM_003060.4(SLC22A5):c.1219C>T (p.Leu407Phe)SNV Uncertain significance 460393 rs754913053 5:131726548-131726548 5:132390856-132390856
185 SLC22A5 NM_003060.4(SLC22A5):c.605T>C (p.Leu202Pro)SNV Uncertain significance 460410 rs142447950 5:131719946-131719946 5:132384254-132384254
186 SLC22A5 NM_003060.4(SLC22A5):c.1462C>T (p.Arg488Cys)SNV Uncertain significance 460399 rs377216516 5:131729379-131729379 5:132393687-132393687
187 SLC22A5 NM_003060.4(SLC22A5):c.1643G>A (p.Arg548Lys)SNV Uncertain significance 460404 rs150775371 5:131729933-131729933 5:132394241-132394241
188 SLC22A5 NM_003060.4(SLC22A5):c.-129_-102deldeletion Uncertain significance 556691 rs1279199437 5:131705534-131705562 5:132369844-132369871
189 SLC22A5 NM_003060.4(SLC22A5):c.1403C>A (p.Thr468Lys)SNV Uncertain significance 529852 rs386134221 5:131728260-131728260 5:132392568-132392568
190 SLC22A5 NM_003060.4(SLC22A5):c.1586G>T (p.Gly529Val)SNV Uncertain significance 529847 rs201307440 5:131729503-131729503 5:132393811-132393811
191 SLC22A5 NM_003060.4(SLC22A5):c.1225C>G (p.Leu409Val)SNV Uncertain significance 529848 rs573330330 5:131726554-131726554 5:132390862-132390862
192 SLC22A5 NM_003060.4(SLC22A5):c.208C>T (p.Arg70Trp)SNV Uncertain significance 529849 rs753453677 5:131705872-131705872 5:132370180-132370180
193 SLC22A5 NM_003060.4(SLC22A5):c.133A>G (p.Thr45Ala)SNV Uncertain significance 529851 rs376438682 5:131705797-131705797 5:132370105-132370105
194 SLC22A5 NM_003060.4(SLC22A5):c.43_45dup (p.Gly15dup)duplication Uncertain significance 551258 rs1554085901 5:131705704-131705704 5:132370015-132370017
195 SLC22A5 NM_003060.4(SLC22A5):c.-131A>CSNV Uncertain significance 556202 rs1554085854 5:131705534-131705534 5:132369842-132369842
196 SLC22A5 NM_003060.4(SLC22A5):c.592G>T (p.Val198Leu)SNV Uncertain significance 633467 rs757979350 5:131719933-131719933 5:132384241-132384241
197 SLC22A5 NM_003060.4(SLC22A5):c.1010C>T (p.Thr337Ile)SNV Uncertain significance 529850 rs142479732 5:131724671-131724671 5:132388979-132388979
198 SLC22A5 NM_003060.4(SLC22A5):c.34G>A (p.Gly12Ser)SNV Uncertain significance 25349 rs139203363 5:131705698-131705698 5:132370006-132370006
199 SLC22A5 NM_003060.4(SLC22A5):c.83G>T (p.Ser28Ile)SNV Uncertain significance 25354 rs72552724 5:131705747-131705747 5:132370055-132370055
200 SLC22A5 NM_003060.4(SLC22A5):c.1552C>G (p.Pro518Ala)SNV Uncertain significance 657702 5:131729469-131729469 5:132393777-132393777
201 SLC22A5 NM_003060.4(SLC22A5):c.1364C>G (p.Pro455Arg)SNV Uncertain significance 655449 5:131728221-131728221 5:132392529-132392529
202 SLC22A5 NM_003060.4(SLC22A5):c.1360T>C (p.Tyr454His)SNV Uncertain significance 656943 5:131728217-131728217 5:132392525-132392525
203 SLC22A5 NM_003060.4(SLC22A5):c.1327T>C (p.Phe443Leu)SNV Uncertain significance 659126 5:131728184-131728184 5:132392492-132392492
204 SLC22A5 NM_003060.4(SLC22A5):c.1199G>A (p.Arg400His)SNV Uncertain significance 642526 5:131726528-131726528 5:132390836-132390836
205 SLC22A5 NM_003060.4(SLC22A5):c.770G>A (p.Arg257Gln)SNV Uncertain significance 645726 5:131721137-131721137 5:132385445-132385445
206 SLC22A5 NM_003060.4(SLC22A5):c.704T>C (p.Val235Ala)SNV Uncertain significance 641983 5:131721071-131721071 5:132385379-132385379
207 SLC22A5 NM_003060.4(SLC22A5):c.635T>C (p.Val212Ala)SNV Uncertain significance 657217 5:131719976-131719976 5:132384284-132384284
208 SLC22A5 NM_003060.4(SLC22A5):c.583A>G (p.Met195Val)SNV Uncertain significance 650327 5:131719924-131719924 5:132384232-132384232
209 SLC22A5 NM_003060.4(SLC22A5):c.377C>A (p.Ser126Tyr)SNV Uncertain significance 664649 5:131706041-131706041 5:132370349-132370349
210 SLC22A5 NM_003060.4(SLC22A5):c.363G>T (p.Gln121His)SNV Uncertain significance 649879 5:131706027-131706027 5:132370335-132370335
211 SLC22A5 NM_003060.4(SLC22A5):c.327G>C (p.Glu109Asp)SNV Uncertain significance 654758 5:131705991-131705991 5:132370299-132370299
212 SLC22A5 NM_003060.4(SLC22A5):c.244C>T (p.Arg82Cys)SNV Uncertain significance 652778 5:131705908-131705908 5:132370216-132370216
213 SLC22A5 NM_003060.4(SLC22A5):c.104C>T (p.Thr35Ile)SNV Uncertain significance 661420 5:131705768-131705768 5:132370076-132370076
214 SLC22A5 NM_003060.4(SLC22A5):c.55C>A (p.Arg19Ser)SNV Uncertain significance 651905 5:131705719-131705719 5:132370027-132370027
215 SLC22A5 NM_003060.4(SLC22A5):c.26C>T (p.Ala9Val)SNV Uncertain significance 655992 5:131705690-131705690 5:132369998-132369998
216 SLC22A5 NM_003060.4(SLC22A5):c.1080_1081delinsTA (p.Leu361Ile)indel Uncertain significance 646659 5:131726409-131726410 5:132390717-132390718
217 SLC22A5 NM_003060.4(SLC22A5):c.1072T>A (p.Tyr358Asn)SNV Uncertain significance 651951 5:131726401-131726401 5:132390709-132390709
218 SLC22A5 NM_003060.4(SLC22A5):c.1055T>G (p.Met352Arg)SNV Uncertain significance 658296 5:131726384-131726384 5:132390692-132390692
219 SLC22A5 NM_003060.4(SLC22A5):c.1022G>A (p.Arg341Gln)SNV Uncertain significance 650541 5:131724683-131724683 5:132388991-132388991
220 SLC22A5 NM_003060.4(SLC22A5):c.1007G>A (p.Arg336Gln)SNV Uncertain significance 659070 5:131724668-131724668 5:132388976-132388976
221 SLC22A5 NM_003060.4(SLC22A5):c.976C>G (p.Gln326Glu)SNV Uncertain significance 665382 5:131724637-131724637 5:132388945-132388945
222 SLC22A5 NM_003060.4(SLC22A5):c.929C>T (p.Ser310Phe)SNV Uncertain significance 650546 5:131722821-131722821 5:132387129-132387129
223 SLC22A5 NM_003060.4(SLC22A5):c.926C>T (p.Pro309Leu)SNV Uncertain significance 645823 5:131722818-131722818 5:132387126-132387126
224 SLC22A5 NM_003060.4(SLC22A5):c.344A>G (p.Asp115Gly)SNV Uncertain significance 25370 rs386134192 5:131706008-131706008 5:132370316-132370316
225 SLC22A5 NM_003060.4(SLC22A5):c.535A>T (p.Met179Leu)SNV Uncertain significance 25379 rs386134196 5:131719876-131719876 5:132384184-132384184
226 SLC22A5 NM_003060.4(SLC22A5):c.137C>T (p.Pro46Leu)SNV Uncertain significance 25357 rs377767445 5:131705801-131705801 5:132370109-132370109
227 SLC22A5 NM_003060.4(SLC22A5):c.1238T>G (p.Val413Gly)SNV Uncertain significance 460394 rs1224278173 5:131726567-131726567 5:132390875-132390875
228 SLC22A5 NM_003060.4(SLC22A5):c.761G>A (p.Arg254Gln)SNV Uncertain significance 25389 rs200699819 5:131721128-131721128 5:132385436-132385436
229 SLC22A5 NM_003060.4(SLC22A5):c.725G>T (p.Gly242Val)SNV Uncertain significance 25387 rs72552728 5:131721092-131721092 5:132385400-132385400
230 SLC22A5 NM_003060.4(SLC22A5):c.769C>T (p.Arg257Trp)SNV Uncertain significance 25391 rs386134203 5:131721136-131721136 5:132385444-132385444
231 SLC22A5 NM_003060.4(SLC22A5):c.287G>C (p.Gly96Ala)SNV Likely benign 25364 rs377767450 5:131705951-131705951 5:132370259-132370259
232 SLC22A5 NM_003060.4(SLC22A5):c.1296G>C (p.Val432=)SNV Likely benign 529854 rs755533900 5:131728153-131728153 5:132392461-132392461
233 SLC22A5 NM_003060.4(SLC22A5):c.1515C>T (p.Leu505=)SNV Likely benign 529856 rs780129415 5:131729432-131729432 5:132393740-132393740
234 SLC22A5 NM_003060.4(SLC22A5):c.1579G>C (p.Val527Leu)SNV Likely benign 460401 rs145792427 5:131729496-131729496 5:132393804-132393804
235 SLC22A5 NM_003060.4(SLC22A5):c.1578A>G (p.Arg526=)SNV Likely benign 460400 rs1554088590 5:131729495-131729495 5:132393803-132393803
236 SLC22A5 NM_003060.4(SLC22A5):c.1380C>T (p.Asn460=)SNV Likely benign 460397 rs149521997 5:131728237-131728237 5:132392545-132392545
237 SLC22A5 NM_003060.4(SLC22A5):c.1586+9A>CSNV Likely benign 460402 rs1554088592 5:131729512-131729512 5:132393820-132393820
238 SLC22A5 NM_003060.4(SLC22A5):c.*1179G>TSNV Likely benign 350834 rs79274129 5:131731143-131731143 5:132395451-132395451
239 SLC22A5 NM_003060.4(SLC22A5):c.1113C>T (p.Asp371=)SNV Likely benign 529855 rs200637508 5:131726442-131726442 5:132390750-132390750
240 SLC22A5 NM_003060.4(SLC22A5):c.904A>G (p.Lys302Glu)SNV Likely benign 460419 rs75783492 5:131722796-131722796 5:132387104-132387104
241 SLC22A5 NM_003060.4(SLC22A5):c.1341C>T (p.Tyr447=)SNV Likely benign 460396 rs58188318 5:131728198-131728198 5:132392506-132392506
242 SLC22A5 NM_003060.4(SLC22A5):c.75C>T (p.Leu25=)SNV Likely benign 460414 rs144054688 5:131705739-131705739 5:132370047-132370047
243 SLC22A5 NM_003060.4(SLC22A5):c.93C>T (p.Pro31=)SNV Likely benign 460420 rs375293546 5:131705757-131705757 5:132370065-132370065
244 SLC22A5 NM_003060.4(SLC22A5):c.279G>C (p.Ser93=)SNV Likely benign 460406 rs377734902 5:131705943-131705943 5:132370251-132370251
245 SLC22A5 NM_003060.4(SLC22A5):c.934A>G (p.Ile312Val)SNV Likely benign 381879 rs77300588 5:131722826-131722826 5:132387134-132387134
246 SLC22A5 NM_003060.4(SLC22A5):c.1441G>A (p.Val481Ile)SNV Likely benign 380141 rs11568513 5:131728298-131728298 5:132392606-132392606
247 SLC22A5 NM_003060.4(SLC22A5):c.798G>A (p.Pro266=)SNV Likely benign 378584 rs143758508 5:131721165-131721165 5:132385473-132385473
248 SLC22A5 NM_003060.4(SLC22A5):c.852C>T (p.Leu284=)SNV Likely benign 390633 rs146185976 5:131722744-131722744 5:132387052-132387052
249 SLC22A5 NM_003060.4(SLC22A5):c.-107G>TSNV Likely benign 350809 rs13180186 5:131705558-131705558 5:132369866-132369866
250 SLC22A5 NM_003060.4(SLC22A5):c.-139G>TSNV Likely benign 350807 rs13180169 5:131705526-131705526 5:132369834-132369834
251 SLC22A5 NM_003060.4(SLC22A5):c.1645C>T (p.Pro549Ser)SNV Benign/Likely benign 25432 rs11568525 5:131729935-131729935 5:132394243-132394243
252 SLC22A5 NM_003060.4(SLC22A5):c.*47C>TSNV Benign/Likely benign 25433 rs1045020 5:131730011-131730011 5:132394319-132394319
253 SLC22A5 NM_003060.4(SLC22A5):c.1434C>T (p.Pro478=)SNV Benign/Likely benign 384574 rs140495935 5:131728291-131728291 5:132392599-132392599
254 SLC22A5 NM_003060.4(SLC22A5):c.1368A>G (p.Thr456=)SNV Benign/Likely benign 384573 rs142355575 5:131728225-131728225 5:132392533-132392533
255 SLC22A5 NM_003060.4(SLC22A5):c.1249A>G (p.Met417Val)SNV Benign/Likely benign 460395 rs139775414 5:131726578-131726578 5:132390886-132390886
256 SLC22A5 NM_003060.4(SLC22A5):c.1125C>T (p.Asn375=)SNV Benign/Likely benign 460390 rs202219455 5:131726454-131726454 5:132390762-132390762
257 SLC22A5 NM_003060.4(SLC22A5):c.1590G>T (p.Met530Ile)SNV Benign/Likely benign 460403 rs148233131 5:131729880-131729880 5:132394188-132394188
258 SLC22A5 NM_003060.4(SLC22A5):c.430C>T (p.Leu144Phe)SNV Benign/Likely benign 25373 rs10040427 5:131714106-131714106 5:132378414-132378414
259 SLC22A5 NM_003060.4(SLC22A5):c.-77G>ASNV Benign/Likely benign 25343 rs13180295 5:131705588-131705588 5:132369896-132369896
260 SLC22A5 NM_003060.4(SLC22A5):c.-78C>TSNV Benign/Likely benign 25342 rs13180043 5:131705587-131705587 5:132369895-132369895
261 SLC22A5 NM_003060.4(SLC22A5):c.59T>A (p.Leu20His)SNV Benign 25352 rs144020613 5:131705723-131705723 5:132370031-132370031
262 SLC22A5 NM_003060.4(SLC22A5):c.652+6=SNV Benign 25382 rs4551059 5:131719999-131719999 5:132384307-132384307
263 SLC22A5 NM_003060.4(SLC22A5):c.393+17G>ASNV Benign 25366 rs11568522 5:131706074-131706074 5:132370382-132370382
264 RNF167 NM_015528.3(RNF167):c.833dup (p.Pro279fs)duplication Benign 375600 rs1057519428 17:4848091-4848091 17:4944796-4944796
265 SLC22A5 NM_003060.4(SLC22A5):c.*843T>CSNV Benign 350827 rs274548 5:131730807-131730807 5:132395115-132395115
266 SLC22A5 NM_003060.4(SLC22A5):c.760C>A (p.Arg254=)SNV Benign 460415 rs121908893 5:131721127-131721127 5:132385435-132385435
267 SLC22A5 NM_003060.4(SLC22A5):c.*92deldeletion Benign 350820 rs142209594 5:131730056-131730056 5:132394364-132394364
268 SLC22A5 NM_003060.4(SLC22A5):c.*959_*960insCinsertion Benign 350831 rs144261584 5:131730923-131730924 5:132395231-132395232
269 SLC22A5 NM_003060.4(SLC22A5):c.-207C>GSNV Benign 350806 rs2631367 5:131705458-131705458 5:132369766-132369766
270 SLC22A5 NM_003060.4(SLC22A5):c.285T>C (p.Leu95=)SNV Benign 94099 rs2631365 5:131705949-131705949 5:132370257-132370257
271 SLC22A5 NM_003060.4(SLC22A5):c.807A>G (p.Leu269=)SNV Benign 94101 rs274558 5:131721174-131721174 5:132385482-132385482
272 SLC22A5 NM_003060.4(SLC22A5):c.824+13T>CSNV Benign 94102 rs274557 5:131721204-131721204 5:132385512-132385512
273 SLC22A5 NM_003060.4(SLC22A5):c.1586+1G>TSNV not provided 25430 rs386134226 5:131729504-131729504 5:132393812-132393812
274 SLC22A5 NM_003060.4(SLC22A5):c.1587-38A>CSNV not provided 25431 rs11568523 5:131729839-131729839 5:132394147-132394147
275 SLC22A5 NM_003060.4(SLC22A5):c.1441G>T (p.Val481Phe)SNV not provided 25427 rs11568513 5:131728298-131728298 5:132392606-132392606
276 SLC22A5 NM_003060.4(SLC22A5):c.652_653insTATGGCCATCAGGTTGGAG (p.Gly218fs)insertion not provided 38791 rs1561570804 5:131719993-131719994 5:132384301-132384302
277 SLC22A5 NM_003060.4(SLC22A5):c.847T>A (p.Trp283Arg)SNV not provided 38792 rs72552729 5:131722739-131722739 5:132387047-132387047
278 SLC22A5 NM_003060.4(SLC22A5):c.1392_1409delinsCA (p.Val465fs)indel not provided 38793 rs386134220 5:131728249-131728266 5:132392557-132392574
279 SLC22A5 NM_003060.4(SLC22A5):c.-185=SNV not provided 25339 rs2631366 5:131705480-131705480 5:132369788-132369788
280 SLC22A5 NM_003060.4(SLC22A5):c.-149G>ASNV not provided 25340 rs57262206 5:131705516-131705516 5:132369824-132369824
281 SLC22A5 NM_003060.4(SLC22A5):c.1342G>T (p.Val448Leu)SNV not provided 25419 rs386134219 5:131728199-131728199 5:132392507-132392507
282 SLC22A5 NM_003060.4(SLC22A5):c.674C>T (p.Ser225Leu)SNV not provided 25395 rs386134205 5:131721041-131721041 5:132385349-132385349
283 SLC22A5 NM_003060.4(SLC22A5):c.824+13=SNV not provided 25394 rs274557 5:131721204-131721204 5:132385512-132385512
284 SLC22A5 NM_003060.4(SLC22A5):c.807= (p.Leu269=)SNV not provided 25393 rs274558 5:131721174-131721174 5:132385482-132385482
285 SLC22A5 NM_003060.4(SLC22A5):c.839C>T (p.Ser280Phe)SNV not provided 25398 rs386134208 5:131722731-131722731 5:132387039-132387039
286 SLC22A5 NM_003060.4(SLC22A5):c.825G>A (p.Trp275Ter)SNV not provided 25397 rs386134207 5:131722717-131722717 5:132387025-132387025
287 SLC22A5 NM_003060.4(SLC22A5):c.902C>A (p.Ala301Asp)SNV not provided 25405 rs72552730 5:131722794-131722794 5:132387102-132387102
288 SLC22A5 NM_003060.4(SLC22A5):c.1161T>G (p.Tyr387Ter)SNV not provided 25409 rs72552731 5:131726490-131726490 5:132390798-132390798
289 SLC22A5 NM_003060.4(SLC22A5):c.1268-34A>GSNV not provided 25414 rs11568515 5:131728091-131728091 5:132392399-132392399
290 SLC22A5 NM_003060.4(SLC22A5):c.1267+3_1267+23deldeletion not provided 25413 rs386134216 5:131726599-131726619 5:132390907-132390927
291 SLC22A5 NM_003060.4(SLC22A5):c.1336G>T (p.Val446Phe)SNV not provided 25417 rs72552733 5:131728193-131728193 5:132392501-132392501
292 SLC22A5 L97LSNV not provided 25365
293 SLC22A5 NM_003060.4(SLC22A5):c.283C>G (p.Leu95Val)SNV not provided 25369 rs386134191 5:131705947-131705947 5:132370255-132370255
294 SLC22A5 NM_003060.4(SLC22A5):c.278C>G (p.Ser93Trp)SNV not provided 25368 rs386134190 5:131705942-131705942 5:132370250-132370250
295 SLC22A5 NM_003060.4(SLC22A5):c.265_266insGGCTCGCCACC (p.Ile89fs)insertion not provided 25367 rs386134189 5:131705929-131705930 5:132370237-132370238
296 SLC22A5 NM_003060.4(SLC22A5):c.285= (p.Leu95=)SNV not provided 25363 rs2631365 5:131705949-131705949 5:132370257-132370257
297 SLC22A5 NM_003060.4(SLC22A5):c.136C>G (p.Pro46Ala)SNV not provided 25356 rs202088921 5:131705800-131705800 5:132370108-132370108
298 SLC22A5 NM_003060.4(SLC22A5):c.246C>T (p.Arg82=)SNV not provided 25360 rs377767448 5:131705910-131705910 5:132370218-132370218
299 SLC22A5 NM_003060.4(SLC22A5):c.235del (p.His79fs)deletion not provided 25359 rs377767447 5:131705896-131705896 5:132370204-132370204
300 SLC22A5 NM_003060.4(SLC22A5):c.207G>C (p.Leu69=)SNV not provided 25358 rs377767446 5:131705871-131705871 5:132370179-132370179
301 SLC22A5 NM_003060.4(SLC22A5):c.652+77A>GSNV not provided 25383 rs274559 5:131720070-131720070 5:132384378-132384378
302 SLC22A5 NM_003060.4(SLC22A5):c.768G>A (p.Trp256Ter)SNV not provided 25390 rs386134202 5:131721135-131721135 5:132385443-132385443
303 SLC22A5 NM_003060.4(SLC22A5):c.849G>T (p.Trp283Cys)SNV not provided 25403 rs386134211 5:131722741-131722741 5:132387049-132387049
304 SLC22A5 NM_003060.4(SLC22A5):c.847T>C (p.Trp283Arg)SNV not provided 25402 rs72552729 5:131722739-131722739 5:132387047-132387047
305 SLC22A5 NM_003060.3(SLC22A5):c.653_824del (p.Thr219Serfs)deletion not provided 25385 rs1554087460 5:131721020-131721191 5:132385328-132385499
306 SLC22A5 G12_L477deldeletion not provided 25348 5:131705697-131728284 5:132370006-132392593
307 SLC22A5 NM_003060.4(SLC22A5):c.1009del (p.Thr337fs)deletion not provided 25406 rs386134213 5:131724670-131724670 5:132388978-132388978
308 SLC22A5 NM_003060.4(SLC22A5):c.4dup (p.Arg2fs)duplication not provided 25346 rs377767443 5:131705668-131705668 5:132369976-132369976
309 SLC22A5 NM_003060.4(SLC22A5):c.-38=SNV not provided 25344 rs1045018 5:131705627-131705627 5:132369935-132369935
310 SLC22A5 NM_003060.4(SLC22A5):c.-207=SNV not provided 25338 rs2631367 5:131705458-131705458 5:132369766-132369766

UniProtKB/Swiss-Prot genetic disease variations for Carnitine Deficiency, Systemic Primary:

73 (showing 73, show less)
# Symbol AA change Variation ID SNP ID
1 SLC22A5 p.Arg169Gln VAR_009252 rs121908889
2 SLC22A5 p.Tyr211Cys VAR_009253 rs121908888
3 SLC22A5 p.Trp283Arg VAR_009254 rs72552729
4 SLC22A5 p.Val446Phe VAR_009255 rs72552733
5 SLC22A5 p.Glu452Lys VAR_009256 rs72552734
6 SLC22A5 p.Pro478Leu VAR_009257 rs72552735
7 SLC22A5 p.Phe17Leu VAR_020347 rs11568520
8 SLC22A5 p.Trp283Cys VAR_022565 rs386134211
9 SLC22A5 p.Ser467Cys VAR_022566 rs60376624
10 SLC22A5 p.Gly15Trp VAR_064110 rs267607052
11 SLC22A5 p.Arg19Pro VAR_064111 rs72552723
12 SLC22A5 p.Asn32Ser VAR_064112 rs72552725
13 SLC22A5 p.Pro46Ser VAR_064113 rs202088921
14 SLC22A5 p.Thr66Pro VAR_064114
15 SLC22A5 p.Arg75Pro VAR_064115 rs757711838
16 SLC22A5 p.Arg83Leu VAR_064116 rs72552726
17 SLC22A5 p.Gly96Ala VAR_064117 rs377767450
18 SLC22A5 p.Asp122Tyr VAR_064118 rs201082652
19 SLC22A5 p.Val123Gly VAR_064119 rs748605096
20 SLC22A5 p.Pro143Leu VAR_064121 rs117858418
21 SLC22A5 p.Arg169Trp VAR_064122 rs121908890
22 SLC22A5 p.Met177Val VAR_064123 rs145068530
23 SLC22A5 p.Leu186Pro VAR_064124 rs386134197
24 SLC22A5 p.Arg227His VAR_064126 rs185551386
25 SLC22A5 p.Phe230Leu VAR_064127 rs756650860
26 SLC22A5 p.Thr232Met VAR_064128 rs114269482
27 SLC22A5 p.Gly234Arg VAR_064129 rs145725852
28 SLC22A5 p.Ala240Thr VAR_064130
29 SLC22A5 p.Gly242Val VAR_064131 rs72552728
30 SLC22A5 p.Arg257Trp VAR_064132 rs386134203
31 SLC22A5 p.Thr264Arg VAR_064133 rs201262157
32 SLC22A5 p.Arg282Gln VAR_064134 rs386134210
33 SLC22A5 p.Ala301Asp VAR_064135 rs72552730
34 SLC22A5 p.Trp351Arg VAR_064137 rs68018207
35 SLC22A5 p.Ser355Leu VAR_064138 rs138563439
36 SLC22A5 p.Tyr358Asn VAR_064139 rs61731073
37 SLC22A5 p.Ser362Leu VAR_064140 rs886042092
38 SLC22A5 p.Pro398Leu VAR_064141 rs144547521
39 SLC22A5 p.Arg399Gln VAR_064142 rs121908891
40 SLC22A5 p.Arg399Trp VAR_064143 rs267607054
41 SLC22A5 p.Thr440Met VAR_064144 rs72552732
42 SLC22A5 p.Ala442Ile VAR_064145 rs267607053
43 SLC22A5 p.Phe443Val VAR_064146
44 SLC22A5 p.Tyr447Cys VAR_064147 rs386134218
45 SLC22A5 p.Pro455Arg VAR_064148 rs140816634
46 SLC22A5 p.Thr468Arg VAR_064149 rs386134221
47 SLC22A5 p.Arg471Cys VAR_064150 rs749282641
48 SLC22A5 p.Arg488Cys VAR_064151 rs377216516
49 SLC22A5 p.Leu507Ser VAR_064152 rs115719854
50 SLC22A5 p.Ser26Asn VAR_066843 rs772578415
51 SLC22A5 p.Ser280Phe VAR_066844 rs386134208
52 SLC22A5 p.Arg471Pro VAR_066845
53 SLC22A5 p.Pro16Leu VAR_079641
54 SLC22A5 p.Ser28Ile VAR_079643 rs72552724
55 SLC22A5 p.Ala44Val VAR_079644 rs199689597
56 SLC22A5 p.Pro46Leu VAR_079645 rs377767445
57 SLC22A5 p.Cys50Tyr VAR_079646
58 SLC22A5 p.Ser93Trp VAR_079647 rs386134190
59 SLC22A5 p.Asp115Gly VAR_079649 rs386134192
60 SLC22A5 p.Arg169Pro VAR_079655
61 SLC22A5 p.Val175Met VAR_079656 rs781721860
62 SLC22A5 p.Met205Arg VAR_079657
63 SLC22A5 p.Asn210Ser VAR_079658 rs386134198
64 SLC22A5 p.Ser225Leu VAR_079660 rs386134205
65 SLC22A5 p.Ser231Phe VAR_079661 rs386134206
66 SLC22A5 p.Pro247Arg VAR_079662
67 SLC22A5 p.Leu363Pro VAR_079675 rs386134214
68 SLC22A5 p.Val439Gly VAR_079679
69 SLC22A5 p.Val448Leu VAR_079680 rs386134219
70 SLC22A5 p.Gly462Val VAR_079681
71 SLC22A5 p.Ser470Phe VAR_079682 rs386134222
72 SLC22A5 p.Arg471His VAR_079683 rs386134223
73 SLC22A5 p.Leu476Arg VAR_079684

Expression for Carnitine Deficiency, Systemic Primary

Search GEO for disease gene expression data for Carnitine Deficiency, Systemic Primary.

Pathways for Carnitine Deficiency, Systemic Primary

Pathways related to Carnitine Deficiency, Systemic Primary according to GeneCards Suite gene sharing:

(showing 17, show less)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.81 SLC25A20 SLC25A13 SLC22A2 PC MMACHC HADHB
2
Show member pathways
12.74 SLC25A20 HADHB HADHA HADH CPT2 ACADVL
3
Show member pathways
12.32 HADHB HADHA HADH CPT2 ACADVL ACADS
4
Show member pathways
12.1 PC HADHA GLYCTK ACADS
5 11.95 HADHB HADHA ACADM
6
Show member pathways
11.87 HADHB HADHA HADH ACADS ACADM
7
Show member pathways
11.69 HADHB HADHA HADH
8 11.65 PC HADH ACADM
9 11.28 HADH ACADVL ACADM
10
Show member pathways
11.25 HADHB HADHA HADH ACADVL ACADS ACADM
11
Show member pathways
11.19 HADHA HADH ACADS
12 10.97 CPT2 ACADM
13
Show member pathways
10.95 SLC25A20 HADHB HADHA HADH CPT2 ACADVL
14 10.89 PC HADH
15
Show member pathways
10.84 HADHB HADHA
16 10.54 SLC25A20 CPT2
17
Show member pathways
10.46 HADHB HADHA HADH ACADM

GO Terms for Carnitine Deficiency, Systemic Primary

Cellular components related to Carnitine Deficiency, Systemic Primary according to GeneCards Suite gene sharing:

(showing 5, show less)
# Name GO ID Score Top Affiliating Genes
1 mitochondrial inner membrane GO:0005743 9.7 SLC25A20 SLC25A13 HADHB HADHA ETFDH CPT2
2 mitochondrial matrix GO:0005759 9.56 PC HADH ETFDH ETFB ETFA ACADVL
3 mitochondrial membrane GO:0031966 9.5 ETFDH ACADVL ACADM
4 mitochondrion GO:0005739 9.5 SLC25A20 SLC25A13 SLC22A4 PC HADHB HADHA
5 mitochondrial nucleoid GO:0042645 9.43 HADHB HADHA ACADVL

Biological processes related to Carnitine Deficiency, Systemic Primary according to GeneCards Suite gene sharing:

(showing 15, show less)
# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.92 PC HADHB HADHA HADH CPT2 ACADVL
2 oxidation-reduction process GO:0055114 9.91 MMACHC HADHA HADH ETFDH ETFB ETFA
3 electron transport chain GO:0022900 9.72 ETFDH ETFB ETFA
4 fatty acid metabolic process GO:0006631 9.7 HADHB HADHA HADH CPT2 ACADVL ACADS
5 organic cation transport GO:0015695 9.54 SLC22A4 SLC22A2
6 respiratory electron transport chain GO:0022904 9.54 ETFDH ETFB ETFA
7 carnitine shuttle GO:0006853 9.52 SLC25A20 CPT2
8 body fluid secretion GO:0007589 9.51 SLC22A4 SLC22A2
9 fatty acid beta-oxidation GO:0006635 9.5 HADHB HADHA HADH CPT2 ACADVL ACADS
10 carnitine metabolic process GO:0009437 9.49 SLC22A4 ACADM
11 cardiolipin acyl-chain remodeling GO:0035965 9.48 HADHB HADHA
12 carnitine transport GO:0015879 9.46 SLC22A5 SLC22A4
13 quaternary ammonium group transport GO:0015697 9.43 SLC22A5 SLC22A4
14 carnitine transmembrane transport GO:1902603 9.4 SLC22A5 SLC22A4
15 fatty acid beta-oxidation using acyl-CoA dehydrogenase GO:0033539 9.1 ETFDH ETFB ETFA ACADVL ACADS ACADM

Molecular functions related to Carnitine Deficiency, Systemic Primary according to GeneCards Suite gene sharing:

(showing 14, show less)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transporter activity GO:0022857 9.78 SLC25A13 SLC22A5 SLC22A4 SLC22A2
2 electron transfer activity GO:0009055 9.7 ETFDH ETFB ETFA
3 oxidoreductase activity GO:0016491 9.56 MMACHC HADHA HADH ETFDH ETFA ACADVL
4 fatty-acyl-CoA binding GO:0000062 9.54 HADHA ACADVL
5 enoyl-CoA hydratase activity GO:0004300 9.51 HADHB HADHA
6 oxidoreductase activity, acting on the CH-CH group of donors GO:0016627 9.5 ACADVL ACADS ACADM
7 acetyl-CoA C-acyltransferase activity GO:0003988 9.49 HADHB HADHA
8 long-chain-enoyl-CoA hydratase activity GO:0016508 9.46 HADHB HADHA
9 quaternary ammonium group transmembrane transporter activity GO:0015651 9.43 SLC22A5 SLC22A4
10 acyl-CoA dehydrogenase activity GO:0003995 9.43 ACADVL ACADS ACADM
11 carnitine transmembrane transporter activity GO:0015226 9.4 SLC22A5 SLC22A4
12 long-chain-3-hydroxyacyl-CoA dehydrogenase activity GO:0016509 9.37 HADHB HADHA
13 3-hydroxyacyl-CoA dehydrogenase activity GO:0003857 9.33 HADHB HADHA HADH
14 flavin adenine dinucleotide binding GO:0050660 9.02 ETFDH ETFA ACADVL ACADS ACADM

Sources for Carnitine Deficiency, Systemic Primary

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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