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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Cardiomyopathies (D009202)
Parent Node: Hyperammonemia (D022124)
Parent Node: Muscular Diseases (D009135)
..Starting node ..Systemic carnitine deficiency (C536778)
Child Nodes:
Sister Nodes:
..Alpha-B Crystallinopathy (C563848)
..Anal Sphincter Myopathy, Internal (C566287)
..Aplasia of Extensor Muscles of Fingers, Unilateral, with Generalized Polyneuropathy (C565945)
..Arthrogryposis (D001176) 55
..Camptodactyly, fibrous tissue hyperplasia, and skeletal dysplasia (C537974)
..Carnitine Palmitoyltransferase II Deficiency, Late-Onset (C563461)
..Compartment Syndromes (D003161) 3
..Contracture (D003286) 41
..Craniomandibular Disorders (D017271) 4
..Dimauro disease (C536176)
..Encephalopathy, Axonal, with Necrotizing Myopathy, Cardiomyopathy, and Cataracts (C565596)
..Eosinophilia-Myalgia Syndrome (D016603)
..Epiphyseal Dysplasia, Multiple, with Myopathy (C563420)
..Erythrocyte Amp Deaminase Deficiency (C567878)
..Erythrocyte Lactate Transporter Defect (C565449)
..Fatigue Syndrome, Chronic (D015673)
..Fibromyalgia (D005356)
..Fingerprint Body Myopathy (C564425)
..Hereditary Myopathy with Early Respiratory Failure (C566343)
..Hypertrophia Musculorum Vera (C564152)
..Isaacs Syndrome (D020386)
..Kocher-Debre-Semelaigne syndrome (C537211)
..Marinesco-Sjogren-like syndrome (MSLS) (C535913)
..Medial Tibial Stress Syndrome (D058923)
..Mesoectodermal dysplasia (C538472)
..Mitochondrial DNA Depletion Syndrome, Myopathic Form (C563698)
..Mitochondrial Myopathies (D017240) 33
..Muscle Cramp (D009120) 3
..Muscle Neoplasms (D019042)
..Muscle Rigidity (D009127) 3
..Muscle Spasticity (D009128) 17
..Muscle Weakness (D018908) 5
..Muscular Disorders, Atrophic (D020966) 120
..Muscular Hypoplasia, Congenital Universal, of Krabbe (C563553)
..Musculoskeletal Pain (D059352) 2
..Myalgia (D063806)
..Myofascial Pain Syndromes (D009209) 1
..Myopathic carnitine deficiency (C536100)
..Myopathies, Structural, Congenital (D020914) 34
..Myopathy due to Malate-Aspartate Shuttle Defect (C564973)
..Myopathy with Giant Abnormal Mitochondria (C564971)
..Myopathy with Lactic Acidosis, Hereditary (C564972)
..Myopathy, Cataract, Hypogonadism Syndrome (C563578)
..Myopathy, congenital nonprogressive with Moebius and Robin sequences (C536102)
..Myopathy, Congenital, With Excess Of Muscle Spindles (C566896)
..Myopathy, Early-Onset, with Fatal Cardiomyopathy (C567129)
..Myopathy, Granulovacuolar Lobular, with Electrical Myotonia (C564974)
..Myopathy, Hyaline Body, Autosomal Recessive (C564970)
..MYOPATHY, MYOFIBRILLAR, 1 (OMIM:601419)
..MYOPATHY, MYOFIBRILLAR, 4 (OMIM:609452)
..MYOPATHY, MYOFIBRILLAR, 6 (OMIM:612954)
..Myopathy, Myosin Storage (C564253)
..Myopathy, Reducing Body, X-Linked, Childhood-Onset (C567468)
..Myopathy, Reducing Body, X-Linked, Early-Onset, Severe (C567469)
..Myopathy, X-Linked, with Excessive Autophagy (C564093)
..Myositis (D009220) 16
..Myostatin-related muscle hypertrophy (C536106)
..Myotonic Disorders (D020967) 10
..Neutral Lipid Storage Disease with Myopathy (C565192)
..Ophthalmoplegic Neuromuscular Disorder with Abnormal Mitochondria (C564925)
..Optic Atrophy, Deafness, Ophthalmoplegia, and Myopathy (C565117)
..Paralyses, Familial Periodic (D010245) 7
..Pectoralis Muscle, Absence of (C566793)
..Polymyalgia Rheumatica (D011111)
..Proximal Myopathy with Focal Depletion of Mitochondria (C563453)
..Rhabdomyolysis (D012206) 6
..Rippling muscle disease, 1 (C535686)
..Salih Myopathy (C580430)
..Secretory Diarrhea, Myopathy, and Deafness (C564382)
..Singleton Merten syndrome (C537343)
..Systemic carnitine deficiency (C536778)
..Tel Hashomer camptodactyly syndrome (C536953)
..Tendinopathy (D052256) 5
..Treft Sanborn Carey syndrome (C536544)
..Triglyceride storage disease with impaired long-chain fatty acid oxidation (C536560)
..Uruguay Faciocardiomusculoskeletal Syndrome (C564544)
..Vacuolar myopathy (C536522)
..VLCAD deficiency (C536353)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

10839

Name:

Systemic carnitine deficiency

Definition:

Alternative IDs:

OMIM:212140

ParentIDs:

MESH:D009135|MESH:D009202|MESH:D022124

TreeNumbers:

C05.651/C536778 |C10.668.491/C536778 |C14.280.238/C536778 |C23.550.421/C536778

Synonyms:

Carnitine deficiency, primary |Carnitine deficiency, systemic, due to defect in renal reabsorption of carnitine |Carnitine deficiency, systemic primary |Carnitine Transporter Deficiency |Carnitine transporter, plasma-membrane, deficiency of |Carnitine uptake

Slim Mappings:

Cardiovascular disease|Musculoskeletal disease|Nervous system disease|Pathology (process)

Reference:

MedGen: C536778
MeSH: C536778
OMIM: 212140;

Genes: SLC22A5;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0001640	Cardiomegaly
3	HP:0001259	Coma
4	HP:0001289	Confusion
5	HP:0001635	Congestive heart failure
6	HP:0045061	Decreased carnitine level in liver
7	HP:0003234	Decreased plasma carnitine
8	HP:0002910	Elevated hepatic transaminase
9	HP:0001298	Encephalopathy
10	HP:0001706	Endocardial fibroelastosis
11	HP:0001262	Excessive daytime somnolence
12	HP:0001508	Failure to thrive
13	HP:0001290	Generalized hypotonia
14	HP:0001397	Hepatic steatosis
15	HP:0002240	Hepatomegaly
16	HP:0001987	Hyperammonemia
17	HP:0001639	Hypertrophic cardiomyopathy
18	HP:0001943	Hypoglycemia
19	HP:0001252	Hypotonia
20	HP:0005959	Impaired gluconeogenesis
21	HP:0001254	Lethargy
22	HP:0001324	Muscle weakness
23	HP:0003198	Myopathy
24	HP:0001988	Recurrent hypoglycemia
25	HP:0030362	Reduced muscle carnitine level
26	HP:0002013	Vomiting

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_003060.3(SLC22A5):c.-207C=	-1	-	not provided	2631367	RCV000022284;	N	MedGen:C0342788,OMIM:212140,ORPHA:158,SNOMED CT:21764004	5	131705458	131705458	NM_003060.3:c.-207C=		NC_000005.9:g.131705458Cx3d	-	C0342788 212140 Renal carnitine transport defect
NM_003060.3(SLC22A5):c.-185C=	-1	-	not provided	2631366	RCV000022285;	N	MedGen:C0342788,OMIM:212140,ORPHA:158,SNOMED CT:21764004	5	131705480	131705480	NM_003060.3:c.-185C=		NC_000005.9:g.131705480Cx3d	-	C0342788 212140 Renal carnitine transport defect
NM_003060.3(SLC22A5):c.-149G>A	-1	-	not provided	57262206	RCV000022286;	N	MedGen:C0342788,OMIM:212140,ORPHA:158,SNOMED CT:21764004	5	131705516	131705516	NM_003060.3:c.-149G>A		NC_000005.9:g.131705516G>A	-	C0342788 212140 Renal carnitine transport defect
NM_003060.3(SLC22A5):c.-91_22del113	-1	-	not provided	-1	RCV000022287;	N	MedGen:C0342788,OMIM:212140,ORPHA:158,SNOMED CT:21764004	5	131705574	131705686	NM_003060.3:c.-91_22del113			dbVar:nssv7487030,dbVar:nsv1197449	C0342788 212140 Renal carnitine transport defect
NM_003060.3(SLC22A5):c.-78C>T	-1	-	not provided	13180043	RCV000022288;	N	MedGen:C0342788,OMIM:212140,ORPHA:158,SNOMED CT:21764004	5	131705587	131705587	NM_003060.3:c.-78C>T		NC_000005.9:g.131705587C>T	-	C0342788 212140 Renal carnitine transport defect
NM_003060.3(SLC22A5):c.-77G>A	-1	-	not provided	13180295	RCV000022289;	N	MedGen:C0342788,OMIM:212140,ORPHA:158,SNOMED CT:21764004	5	131705588	131705588	NM_003060.3:c.-77G>A		NC_000005.9:g.131705588G>A	-	C0342788 212140 Renal carnitine transport defect
NM_003060.3(SLC22A5):c.-38C=	6584	SLC22A5	not provided	1045018	RCV000022290;	N	MedGen:C0342788,OMIM:212140,ORPHA:158,SNOMED CT:21764004	5	131705627	131705627	NM_003060.3:c.-38C=		NC_000005.9:g.131705627Cx3d	-	C0342788 212140 Renal carnitine transport defect
NM_003060.3(SLC22A5):c.3G>T (p.Met1Ile)	6584	SLC22A5	Pathogenic	121908892	RCV000006794;	N	MedGen:C0342788,OMIM:212140,ORPHA:158,SNOMED CT:21764004	5	131705667	131705667	NM_003060.3:c.3G>T	NP_003051.1:p.Met1Ile	NC_000005.9:g.131705667G>T	ARUP_SLC22A5:NM_003060.2:c.3G>T,OMIM Allelic Variant:603377.0018	C0342788 212140 Renal carnitine transport defect
NM_003060.3(SLC22A5):c.4dupC (p.Arg2Profs)	6584	SLC22A5	not provided	377767443	RCV000022292;	N	MedGen:C0342788,OMIM:212140,ORPHA:158,SNOMED CT:21764004	5	131705668	131705668	NM_003060.3:c.4dupC	NP_003051.1:p.Arg2Profs	NC_000005.9:g.131705668dupC	-	C0342788 212140 Renal carnitine transport defect
NM_003060.3(SLC22A5):c.12C>G (p.Tyr4Ter)	6584	SLC22A5	not provided	72552722	RCV000022293;	N	MedGen:C0342788,OMIM:212140,ORPHA:158,SNOMED CT:21764004	5	131705676	131705676	NM_003060.3:c.12C>G	NP_003051.1:p.Tyr4Ter	NC_000005.9:g.131705676C>G	ARUP_SLC22A5:NM_003060.2:c.12C>G	C0342788 212140 Renal carnitine transport defect
NC_000005.9:g.131705697_131728284del22588	6584	SLC22A5	not provided	-1	RCV000022294;	N	MedGen:C0342788,OMIM:212140,ORPHA:158,SNOMED CT:21764004	5	131705697	131728284	-	-		-	C0342788 212140 Renal carnitine transport defect
NM_003060.3(SLC22A5):c.34G>A (p.Gly12Ser)	6584	SLC22A5	Pathogenic	139203363	RCV000022295; RCV000186148;	N	MedGen:C0342788,OMIM:212140,ORPHA:158,SNOMED CT:21764004; MedGen:CN221809	5	131705698	131705698	NM_003060.3:c.34G>A	NP_003051.1:p.Gly12Ser	NC_000005.9:g.131705698G>A	ARUP_SLC22A5:NM_003060.2:c.34G>A	CN221809 not provided; C0342788 212140 Renal carnitine transport defect
NM_003060.3(SLC22A5):c.43G>T (p.Gly15Trp)	6584	SLC22A5	Likely pathogenic;Pathogenic	267607052	RCV000006798; RCV000186150;	N	MedGen:C0342788,OMIM:212140,ORPHA:158,SNOMED CT:21764004; MedGen:CN221809	5	131705707	131705707	NM_003060.3:c.43G>T	NP_003051.1:p.Gly15Trp	NC_000005.9:g.131705707G>T	ARUP_SLC22A5:NM_003060.2:c.43G>T,OMIM Allelic Variant:603377.0022	CN221809 not provided; C0342788 212140 Renal carnitine transport defect
NM_003060.3(SLC22A5):c.51C>G (p.Phe17Leu)	6584	SLC22A5	Pathogenic	11568520	RCV000022297;	N	MedGen:C0342788,OMIM:212140,ORPHA:158,SNOMED CT:21764004	5	131705715	131705715	NM_003060.3:c.51C>G	NP_003051.1:p.Phe17Leu	NC_000005.9:g.131705715C>G	ARUP_SLC22A5:NM_003060.2:c.51C>G,HGMD:CM067796	C0342788 212140 Renal carnitine transport defect
NM_003060.3(SLC22A5):c.56G>C (p.Arg19Pro)	6584	SLC22A5	not provided	72552723	RCV000022298;	N	MedGen:C0342788,OMIM:212140,ORPHA:158,SNOMED CT:21764004	5	131705720	131705720	NM_003060.3:c.56G>C	NP_003051.1:p.Arg19Pro	NC_000005.9:g.131705720G>C	ARUP_SLC22A5:NM_003060.2:c.56G>C	C0342788 212140 Renal carnitine transport defect
NM_003060.3(SLC22A5):c.59T>A (p.Leu20His)	6584	SLC22A5	not provided	144020613	RCV000022299;	N	MedGen:C0342788,OMIM:212140,ORPHA:158,SNOMED CT:21764004	5	131705723	131705723	NM_003060.3:c.59T>A	NP_003051.1:p.Leu20His	NC_000005.9:g.131705723T>A	ARUP_SLC22A5:NM_003060.2:c.59T>A	C0342788 212140 Renal carnitine transport defect
NM_003060.3(SLC22A5):c.67_69delTTC (p.Phe23del)	6584	SLC22A5	not provided	377767444	RCV000022300;	N	MedGen:C0342788,OMIM:212140,ORPHA:158,SNOMED CT:21764004	5	131705731	131705733	NM_003060.3:c.67_69delTTC	NP_003051.1:p.Phe23del	NC_000005.9:g.131705731_131705733delTTC	-	C0342788 212140 Renal carnitine transport defect
NM_003060.3(SLC22A5):c.83G>T (p.Ser28Ile)	6584	SLC22A5	not provided	72552724	RCV000022301;	N	MedGen:C0342788,OMIM:212140,ORPHA:158,SNOMED CT:21764004	5	131705747	131705747	NM_003060.3:c.83G>T	NP_003051.1:p.Ser28Ile	NC_000005.9:g.131705747G>T	ARUP_SLC22A5:NM_003060.2:c.83G>T	C0342788 212140 Renal carnitine transport defect
NM_003060.3(SLC22A5):c.95A>G (p.Asn32Ser)	6584	SLC22A5	not provided	72552725	RCV000022302;	N	MedGen:C0342788,OMIM:212140,ORPHA:158,SNOMED CT:21764004	5	131705759	131705759	NM_003060.3:c.95A>G	NP_003051.1:p.Asn32Ser	NC_000005.9:g.131705759A>G	ARUP_SLC22A5:NM_003060.2:c.95A>G	C0342788 212140 Renal carnitine transport defect
NM_003060.3(SLC22A5):c.136C>G (p.Pro46Ala)	6584	SLC22A5	not provided	202088921	RCV000022303;	N	MedGen:C0342788,OMIM:212140,ORPHA:158,SNOMED CT:21764004	5	131705800	131705800	NM_003060.3:c.136C>G	NP_003051.1:p.Pro46Ala	NC_000005.9:g.131705800C>G,NC_000005.9:g.131705800C>T	ARUP_SLC22A5:NM_003060.2:c.136C>G	C0342788 212140 Renal carnitine transport defect
NM_003060.3(SLC22A5):c.136C>T (p.Pro46Ser)	6584	SLC22A5	Pathogenic	202088921	RCV000173299; RCV000186152;	N	MedGen:C0342788,OMIM:212140,ORPHA:158,SNOMED CT:21764004; MedGen:CN221809	5	131705800	131705800	NM_003060.3:c.136C>T	NP_003051.1:p.Pro46Ser	NC_000005.9:g.131705800C>G,NC_000005.9:g.131705800C>T	-	CN221809 not provided; C0342788 212140 Renal carnitine transport defect
NM_003060.3(SLC22A5):c.137C>T (p.Pro46Leu)	6584	SLC22A5	not provided	377767445	RCV000022304;	N	MedGen:C0342788,OMIM:212140,ORPHA:158,SNOMED CT:21764004	5	131705801	131705801	NM_003060.3:c.137C>T	NP_003051.1:p.Pro46Leu	NC_000005.9:g.131705801C>T	ARUP_SLC22A5:NM_003060.2:c.137C>T	C0342788 212140 Renal carnitine transport defect
NM_003060.3(SLC22A5):c.148delT (p.Cys50Alafs)	6584	SLC22A5	not provided	386134227	RCV000032093;	N	MedGen:C0342788,OMIM:212140,ORPHA:158,SNOMED CT:21764004	5	131705812	131705812	NM_003060.3:c.148delT	NP_003051.1:p.Cys50Alafs	NC_000005.9:g.131705812delT	-	C0342788 212140 Renal carnitine transport defect
NM_003060.3(SLC22A5):c.207G>C (p.Leu69=)	6584	SLC22A5	not provided	377767446	RCV000022305;	N	MedGen:C0342788,OMIM:212140,ORPHA:158,SNOMED CT:21764004	5	131705871	131705871	NM_003060.3:c.207G>C	NP_003051.1:p.Leu69=	NC_000005.9:g.131705871G>C	ARUP_SLC22A5:NM_003060.2:c.207G>C	C0342788 212140 Renal carnitine transport defect
NM_003060.3(SLC22A5):c.232delC (p.His79Thrfs)	6584	SLC22A5	not provided	377767447	RCV000022306;	N	MedGen:C0342788,OMIM:212140,ORPHA:158,SNOMED CT:21764004	5	131705896	131705896	NM_003060.3:c.232delC	NP_003051.1:p.His79Thrfs	NC_000005.9:g.131705896delC	-	C0342788 212140 Renal carnitine transport defect
NM_003060.3(SLC22A5):c.246C>T (p.Arg82=)	6584	SLC22A5	Benign	377767448	RCV000022307; RCV000128065;	N	MedGen:C0342788,OMIM:212140,ORPHA:158,SNOMED CT:21764004; MedGen:CN169374	5	131705910	131705910	NM_003060.3:c.246C>T	NP_003051.1:p.Arg82=	NC_000005.9:g.131705910C>T	ARUP_SLC22A5:NM_003060.2:c.246C>T	CN169374 not specified; C0342788 212140 Renal carnitine transport defect
NM_003060.3(SLC22A5):c.248G>T (p.Arg83Leu)	6584	SLC22A5	Pathogenic	72552726	RCV000022308; RCV000186132;	N	MedGen:C0342788,OMIM:212140,ORPHA:158,SNOMED CT:21764004; MedGen:CN221809	5	131705912	131705912	NM_003060.3:c.248G>T	NP_003051.1:p.Arg83Leu	NC_000005.9:g.131705912G>T	ARUP_SLC22A5:NM_003060.2:c.248G>T,HGMD:CM043096	CN221809 not provided; C0342788 212140 Renal carnitine transport defect
NM_003060.3(SLC22A5):c.254_264dupGGCTCGCCACC (p.Ile89Glyfs)	6584	SLC22A5	Pathogenic	377767449	RCV000022309; RCV000186155;	N	MedGen:C0342788,OMIM:212140,ORPHA:158,SNOMED CT:21764004; MedGen:CN221809	5	131705918	131705928	NM_003060.3:c.254_264dupGGCTCGCCACC	NP_003051.1:p.Ile89Glyfs	NC_000005.9:g.131705918_131705928dupGGCTCGCCACC	-	CN221809 not provided; C0342788 212140 Renal carnitine transport defect
NM_003060.3(SLC22A5):c.265_266insGGCTCGCCACC (p.Ile89Argfs)	6584	SLC22A5	not provided	386134189	RCV000022314;	N	MedGen:C0342788,OMIM:212140,ORPHA:158,SNOMED CT:21764004	5	131705929	131705930	NM_003060.3:c.265_266insGGCTCGCCACC	NP_003051.1:p.Ile89Argfs	NC_000005.9:g.131705929_131705930insGGCTCGCCACC	ARUP_SLC22A5:NM_003060.2:c.265_266insGGCTCGCCACC	C0342788 212140 Renal carnitine transport defect
NM_003060.3(SLC22A5):c.278C>G (p.Ser93Trp)	6584	SLC22A5	not provided	386134190	RCV000022315;	N	MedGen:C0342788,OMIM:212140,ORPHA:158,SNOMED CT:21764004	5	131705942	131705942	NM_003060.3:c.278C>G	NP_003051.1:p.Ser93Trp	NC_000005.9:g.131705942C>G	ARUP_SLC22A5:NM_003060.2:c.278C>G	C0342788 212140 Renal carnitine transport defect
NM_003060.3(SLC22A5):c.283C>G (p.Leu95Val)	6584	SLC22A5	not provided	386134191	RCV000022316;	N	MedGen:C0342788,OMIM:212140,ORPHA:158,SNOMED CT:21764004	5	131705947	131705947	NM_003060.3:c.283C>G	NP_003051.1:p.Leu95Val	NC_000005.9:g.131705947C>G	ARUP_SLC22A5:NM_003060.2:c.283C>G	C0342788 212140 Renal carnitine transport defect
NM_003060.3(SLC22A5):c.285T= (p.Leu95=)	6584	SLC22A5	not provided	2631365	RCV000022310;	N	MedGen:C0342788,OMIM:212140,ORPHA:158,SNOMED CT:21764004	5	131705949	131705949	NM_003060.3:c.285T=	NP_003051.1:p.Leu95=	NC_000005.9:g.131705949Tx3d,NC_000005.9:g.131705949T>C	-	C0342788 212140 Renal carnitine transport defect
NM_003060.3(SLC22A5):c.287G>C (p.Gly96Ala)	6584	SLC22A5	Uncertain significance	377767450	RCV000022311; RCV000186133;	N	MedGen:C0342788,OMIM:212140,ORPHA:158,SNOMED CT:21764004; MedGen:CN169374	5	131705951	131705951	NM_003060.3:c.287G>C	NP_003051.1:p.Gly96Ala	NC_000005.9:g.131705951G>C	ARUP_SLC22A5:NM_003060.2:c.287G>C	CN169374 not specified; C0342788 212140 Renal carnitine transport defect
NM_003060.3(SLC22A5):c.344A>G (p.Asp115Gly)	6584	SLC22A5	not provided	386134192	RCV000022317;	N	MedGen:C0342788,OMIM:212140,ORPHA:158,SNOMED CT:21764004	5	131706008	131706008	NM_003060.3:c.344A>G	NP_003051.1:p.Asp115Gly	NC_000005.9:g.131706008A>G	ARUP_SLC22A5:NM_003060.2:c.344A>G	C0342788 212140 Renal carnitine transport defect
NM_003060.3(SLC22A5):c.364G>T (p.Asp122Tyr)	6584	SLC22A5	Pathogenic	201082652	RCV000022318; RCV000186160;	N	MedGen:C0342788,OMIM:212140,ORPHA:158,SNOMED CT:21764004; MedGen:CN221809	5	131706028	131706028	NM_003060.3:c.364G>T	NP_003051.1:p.Asp122Tyr	NC_000005.9:g.131706028G>T	ARUP_SLC22A5:NM_003060.2:c.364G>T	CN221809 not provided; C0342788 212140 Renal carnitine transport defect
NM_003060.3(SLC22A5):c.393+17G>A	6584	SLC22A5	Benign	11568522	RCV000022313; RCV000153960;	N	MedGen:C0342788,OMIM:212140,ORPHA:158,SNOMED CT:21764004; MedGen:CN169374	5	131706074	131706074	NM_003060.3:c.393+17G>A		NC_000005.9:g.131706074G>A	-	CN169374 not specified; C0342788 212140 Renal carnitine transport defect
NM_003060.3(SLC22A5):c.394-2A>C	6584	SLC22A5	Pathogenic	377724489	RCV000153961;	N	MedGen:C0342788,OMIM:212140,ORPHA:158,SNOMED CT:21764004	5	131714068	131714068	NM_003060.3:c.394-2A>C		NC_000005.9:g.131714068A>C	-	C0342788 212140 Renal carnitine transport defect
NM_003060.3(SLC22A5):c.396G>A (p.Trp132Ter)	6584	SLC22A5	Likely pathogenic;Pathogenic	72552727	RCV000006780;	N	MedGen:C0342788,OMIM:212140,ORPHA:158,SNOMED CT:21764004	5	131714072	131714072	NM_003060.3:c.396G>A	NP_003051.1:p.Trp132Ter	NC_000005.9:g.131714072G>A	ARUP_SLC22A5:NM_003060.2:c.396G>A,OMIM Allelic Variant:603377.0003	C0342788 212140 Renal carnitine transport defect
NM_003060.3(SLC22A5):c.414C>T (p.Asp138=)	6584	SLC22A5	not provided	150705788	RCV000022325;	N	MedGen:C0342788,OMIM:212140,ORPHA:158,SNOMED CT:21764004	5	131714090	131714090	NM_003060.3:c.414C>T	NP_003051.1:p.Asp138=	NC_000005.9:g.131714090C>T	ARUP_SLC22A5:NM_003060.2:c.414C>T	C0342788 212140 Renal carnitine transport defect
NM_003060.3(SLC22A5):c.424G>T (p.Ala142Ser)	6584	SLC22A5	Pathogenic	151231558	RCV000022320;	N	MedGen:C0342788,OMIM:212140,ORPHA:158,SNOMED CT:21764004	5	131714100	131714100	NM_003060.3:c.424G>T	NP_003051.1:p.Ala142Ser	NC_000005.9:g.131714100G>T	ARUP_SLC22A5:NM_003060.2:c.424G>T,HGMD:CM061985	C0342788 212140 Renal carnitine transport defect
NM_003060.3(SLC22A5):c.430C>T (p.Leu144Phe)	6584	SLC22A5	Benign	10040427	RCV000022321; RCV000153962;	N	MedGen:C0342788,OMIM:212140,ORPHA:158,SNOMED CT:21764004; MedGen:CN169374	5	131714106	131714106	NM_003060.3:c.430C>T	NP_003051.1:p.Leu144Phe	NC_000005.9:g.131714106C>T	ARUP_SLC22A5:NM_003060.2:c.430C>T	CN169374 not specified; C0342788 212140 Renal carnitine transport defect
NM_003060.3(SLC22A5):c.451G>A (p.Val151Met)	6584	SLC22A5	not provided	386134193	RCV000022322;	N	MedGen:C0342788,OMIM:212140,ORPHA:158,SNOMED CT:21764004	5	131714127	131714127	NM_003060.3:c.451G>A	NP_003051.1:p.Val151Met	NC_000005.9:g.131714127G>A	-	C0342788 212140 Renal carnitine transport defect
NM_003060.3(SLC22A5):c.453G>A (p.Val151=)	6584	SLC22A5	Likely benign	386134194	RCV000022323; RCV000186131;	N	MedGen:C0342788,OMIM:212140,ORPHA:158,SNOMED CT:21764004; MedGen:CN169374	5	131714129	131714129	NM_003060.3:c.453G>A	NP_003051.1:p.Val151=	NC_000005.9:g.131714129G>A	ARUP_SLC22A5:NM_003060.2:c.453G>A	CN169374 not specified; C0342788 212140 Renal carnitine transport defect
NM_003060.3(SLC22A5):c.458_459delTG (p.Val153Alafs)	6584	SLC22A5	Likely pathogenic;Pathogenic	386134195	RCV000022324; RCV000186159;	N	MedGen:C0342788,OMIM:212140,ORPHA:158,SNOMED CT:21764004; MedGen:CN221809	5	131714134	131714135	NM_003060.3:c.458_459delTG	NP_003051.1:p.Val153Alafs	NC_000005.9:g.131714134_131714135delTG	-	CN221809 not provided; C0342788 212140 Renal carnitine transport defect
NM_003060.3(SLC22A5):c.505C>T (p.Arg169Trp)	6584	SLC22A5	Likely pathogenic;Pathogenic	121908890	RCV000006791;	N	MedGen:C0342788,OMIM:212140,ORPHA:158,SNOMED CT:21764004	5	131719846	131719846	NM_003060.3:c.505C>T	NP_003051.1:p.Arg169Trp	NC_000005.9:g.131719846C>T	ARUP_SLC22A5:NM_003060.2:c.505C>T,OMIM Allelic Variant:603377.0014	C0342788 212140 Renal carnitine transport defect
NM_003060.3(SLC22A5):c.506G>A (p.Arg169Gln)	6584	SLC22A5	Pathogenic	121908889	RCV000006790; RCV000186134;	N	MedGen:C0342788,OMIM:212140,ORPHA:158,SNOMED CT:21764004; MedGen:CN221809	5	131719847	131719847	NM_003060.3:c.506G>A	NP_003051.1:p.Arg169Gln	NC_000005.9:g.131719847G>A	ARUP_SLC22A5:NM_003060.2:c.506G>A,OMIM Allelic Variant:603377.0013	CN221809 not provided; C0342788 212140 Renal carnitine transport defect
NM_003060.3(SLC22A5):c.535A>T (p.Met179Leu)	6584	SLC22A5	not provided	386134196	RCV000022328;	N	MedGen:C0342788,OMIM:212140,ORPHA:158,SNOMED CT:21764004	5	131719876	131719876	NM_003060.3:c.535A>T	NP_003051.1:p.Met179Leu	NC_000005.9:g.131719876A>T	ARUP_SLC22A5:NM_003060.2:c.535A>T	C0342788 212140 Renal carnitine transport defect
NM_003060.3(SLC22A5):c.557T>C (p.Leu186Pro)	6584	SLC22A5	not provided	386134197	RCV000022329;	N	MedGen:C0342788,OMIM:212140,ORPHA:158,SNOMED CT:21764004	5	131719898	131719898	NM_003060.3:c.557T>C	NP_003051.1:p.Leu186Pro	NC_000005.9:g.131719898T>C	ARUP_SLC22A5:NM_003060.2:c.557T>C	C0342788 212140 Renal carnitine transport defect
NM_003060.3(SLC22A5):c.629A>G (p.Asn210Ser)	6584	SLC22A5	not provided	386134198	RCV000022330;	N	MedGen:C0342788,OMIM:212140,ORPHA:158,SNOMED CT:21764004	5	131719970	131719970	NM_003060.3:c.629A>G	NP_003051.1:p.Asn210Ser	NC_000005.9:g.131719970A>G	ARUP_SLC22A5:NM_003060.2:c.629A>G	C0342788 212140 Renal carnitine transport defect
NM_003060.3(SLC22A5):c.632A>G (p.Tyr211Cys)	6584	SLC22A5	Pathogenic	121908888	RCV000006789; RCV000186136;	N	MedGen:C0342788,OMIM:212140,ORPHA:158,SNOMED CT:21764004; MedGen:CN221809	5	131719973	131719973	NM_003060.3:c.632A>G	NP_003051.1:p.Tyr211Cys	NC_000005.9:g.131719973A>G	ARUP_SLC22A5:NM_003060.2:c.632A>G,OMIM Allelic Variant:603377.0012	CN221809 not provided; C0342788 212140 Renal carnitine transport defect
NM_003060.3(SLC22A5):c.641C>T (p.Ala214Val)	6584	SLC22A5	Pathogenic	386134199	RCV000022332; RCV000186137;	N	MedGen:C0342788,OMIM:212140,ORPHA:158,SNOMED CT:21764004; MedGen:CN221809	5	131719982	131719982	NM_003060.3:c.641C>T	NP_003051.1:p.Ala214Val	NC_000005.9:g.131719982C>T	ARUP_SLC22A5:NM_003060.2:c.641C>T	CN221809 not provided; C0342788 212140 Renal carnitine transport defect
NP_003051.1:p.Gly218fs	6584	SLC22A5	not provided	-1	RCV000022333;	N	MedGen:C0342788,OMIM:212140,ORPHA:158,SNOMED CT:21764004	5	131719993	131721020	-	-		-	C0342788 212140 Renal carnitine transport defect
NM_003060.3(SLC22A5):c.652+1G>A	6584	SLC22A5	not provided	386134200	RCV000022334;	N	MedGen:C0342788,OMIM:212140,ORPHA:158,SNOMED CT:21764004	5	131719994	131719994	NM_003060.3:c.652+1G>A		NC_000005.9:g.131719994G>A	ARUP_SLC22A5:NM_003060.2:c.652+1G>A	C0342788 212140 Renal carnitine transport defect
NM_003060.3(SLC22A5):c.652+6A>G	6584	SLC22A5	Benign	4551059	RCV000022335; RCV000080057;	N	MedGen:C0342788,OMIM:212140,ORPHA:158,SNOMED CT:21764004; MedGen:CN169374	5	131719999	131719999	NM_003060.3:c.652+6A>G		NC_000005.9:g.131719999A>G	-	CN169374 not specified; C0342788 212140 Renal carnitine transport defect
NM_003060.3(SLC22A5):c.652+77A>G	6584	SLC22A5	not provided	274559	RCV000022336;	N	MedGen:C0342788,OMIM:212140,ORPHA:158,SNOMED CT:21764004	5	131720070	131720070	NM_003060.3:c.652+77A>G		NC_000005.9:g.131720070A>G	-	C0342788 212140 Renal carnitine transport defect
NM_003060.3(SLC22A5):c.653-2A>C	6584	SLC22A5	not provided	386134201	RCV000022337;	N	MedGen:C0342788,OMIM:212140,ORPHA:158,SNOMED CT:21764004	5	131721018	131721018	NM_003060.3:c.653-2A>C		NC_000005.9:g.131721018A>C	ARUP_SLC22A5:NM_003060.2:c.653-2A>C	C0342788 212140 Renal carnitine transport defect
NM_003060.3(SLC22A5):c.653_824del172 (p.Thr219Serfs)	6584	SLC22A5	not provided	-1	RCV000022338;	N	MedGen:C0342788,OMIM:212140,ORPHA:158,SNOMED CT:21764004	5	131721020	131721191	NM_003060.3:c.653_824del172	NP_003051.1:p.Thr219Serfs		dbVar:nssv7487031,dbVar:nsv1197450	C0342788 212140 Renal carnitine transport defect
NM_003060.3(SLC22A5):c.674C>T (p.Ser225Leu)	6584	SLC22A5	not provided	386134205	RCV000022348;	N	MedGen:C0342788,OMIM:212140,ORPHA:158,SNOMED CT:21764004	5	131721041	131721041	NM_003060.3:c.674C>T	NP_003051.1:p.Ser225Leu	NC_000005.9:g.131721041C>T	ARUP_SLC22A5:NM_003060.2:c.674C>T	C0342788 212140 Renal carnitine transport defect
NM_003060.3(SLC22A5):c.692C>T (p.Ser231Phe)	6584	SLC22A5	not provided	386134206	RCV000022349;	N	MedGen:C0342788,OMIM:212140,ORPHA:158,SNOMED CT:21764004	5	131721059	131721059	NM_003060.3:c.692C>T	NP_003051.1:p.Ser231Phe	NC_000005.9:g.131721059C>T	ARUP_SLC22A5:NM_003060.2:c.692C>T	C0342788 212140 Renal carnitine transport defect
NM_003060.3(SLC22A5):c.695C>T (p.Thr232Met)	6584	SLC22A5	Pathogenic	114269482	RCV000022339;	N	MedGen:C0342788,OMIM:212140,ORPHA:158,SNOMED CT:21764004	5	131721062	131721062	NM_003060.3:c.695C>T	NP_003051.1:p.Thr232Met	NC_000005.9:g.131721062C>T	ARUP_SLC22A5:NM_003060.2:c.695C>T,HGMD:CM051222	C0342788 212140 Renal carnitine transport defect
NM_003060.3(SLC22A5):c.725G>T (p.Gly242Val)	6584	SLC22A5	not provided	72552728	RCV000022340;	N	MedGen:C0342788,OMIM:212140,ORPHA:158,SNOMED CT:21764004	5	131721092	131721092	NM_003060.3:c.725G>T	NP_003051.1:p.Gly242Val	NC_000005.9:g.131721092G>T	ARUP_SLC22A5:NM_003060.2:c.725G>T	C0342788 212140 Renal carnitine transport defect
NM_003060.3(SLC22A5):c.760C>T (p.Arg254Ter)	6584	SLC22A5	Pathogenic	121908893	RCV000006795;	N	MedGen:C0342788,OMIM:212140,ORPHA:158,SNOMED CT:21764004	5	131721127	131721127	NM_003060.3:c.760C>T	NP_003051.1:p.Arg254Ter	NC_000005.9:g.131721127C>T	ARUP_SLC22A5:NM_003060.2:c.760C>T,HGMD:CM022066,OMIM Allelic Variant:603377.0019	C0342788 212140 Renal carnitine transport defect
NM_003060.3(SLC22A5):c.761G>A (p.Arg254Gln)	6584	SLC22A5	not provided	200699819	RCV000022342;	N	MedGen:C0342788,OMIM:212140,ORPHA:158,SNOMED CT:21764004	5	131721128	131721128	NM_003060.3:c.761G>A	NP_003051.1:p.Arg254Gln	NC_000005.9:g.131721128G>A	ARUP_SLC22A5:NM_003060.2:c.761G>A	C0342788 212140 Renal carnitine transport defect
NM_003060.3(SLC22A5):c.768G>A (p.Trp256Ter)	6584	SLC22A5	not provided	386134202	RCV000022343;	N	MedGen:C0342788,OMIM:212140,ORPHA:158,SNOMED CT:21764004	5	131721135	131721135	NM_003060.3:c.768G>A	NP_003051.1:p.Trp256Ter	NC_000005.9:g.131721135G>A	ARUP_SLC22A5:NM_003060.2:c.768G>A	C0342788 212140 Renal carnitine transport defect
NM_003060.3(SLC22A5):c.769C>T (p.Arg257Trp)	6584	SLC22A5	Pathogenic	386134203	RCV000022344; RCV000186140;	N	MedGen:C0342788,OMIM:212140,ORPHA:158,SNOMED CT:21764004; MedGen:CN221809	5	131721136	131721136	NM_003060.3:c.769C>T	NP_003051.1:p.Arg257Trp	NC_000005.9:g.131721136C>T	ARUP_SLC22A5:NM_003060.2:c.769C>T	CN221809 not provided; C0342788 212140 Renal carnitine transport defect
NM_003060.3(SLC22A5):c.806delT (p.Leu269Hisfs)	6584	SLC22A5	not provided	386134204	RCV000022345;	N	MedGen:C0342788,OMIM:212140,ORPHA:158,SNOMED CT:21764004	5	131721173	131721173	NM_003060.3:c.806delT	NP_003051.1:p.Leu269Hisfs	NC_000005.9:g.131721173delT	-	C0342788 212140 Renal carnitine transport defect
NM_003060.3(SLC22A5):c.807A= (p.Leu269=)	6584	SLC22A5	not provided	274558	RCV000022346;	N	MedGen:C0342788,OMIM:212140,ORPHA:158,SNOMED CT:21764004	5	131721174	131721174	NM_003060.3:c.807A=	NP_003051.1:p.Leu269=	NC_000005.9:g.131721174Ax3d,NC_000005.9:g.131721174A>G	-	C0342788 212140 Renal carnitine transport defect
NM_003060.3(SLC22A5):c.824+13T=	6584	SLC22A5	not provided	274557	RCV000022347;	N	MedGen:C0342788,OMIM:212140,ORPHA:158,SNOMED CT:21764004	5	131721204	131721204	NM_003060.3:c.824+13T=		NC_000005.9:g.131721204Tx3d,NC_000005.9:g.131721204T>C	-	C0342788 212140 Renal carnitine transport defect
NM_003060.3(SLC22A5):c.825G>A (p.Trp275Ter)	6584	SLC22A5	not provided	386134207	RCV000022350;	N	MedGen:C0342788,OMIM:212140,ORPHA:158,SNOMED CT:21764004	5	131722717	131722717	NM_003060.3:c.825G>A	NP_003051.1:p.Trp275Ter	NC_000005.9:g.131722717G>A	ARUP_SLC22A5:NM_003060.2:c.825G>A	C0342788 212140 Renal carnitine transport defect
NM_003060.3(SLC22A5):c.839C>T (p.Ser280Phe)	6584	SLC22A5	not provided	386134208	RCV000022351;	N	MedGen:C0342788,OMIM:212140,ORPHA:158,SNOMED CT:21764004	5	131722731	131722731	NM_003060.3:c.839C>T	NP_003051.1:p.Ser280Phe	NC_000005.9:g.131722731C>T	ARUP_SLC22A5:NM_003060.2:c.839C>T	C0342788 212140 Renal carnitine transport defect
NM_003060.3(SLC22A5):c.839delC (p.Arg282Aspfs)	6584	SLC22A5	not provided	386134209	RCV000022352;	N	MedGen:C0342788,OMIM:212140,ORPHA:158,SNOMED CT:21764004	5	131722731	131722731	NM_003060.3:c.839delC	NP_003051.1:p.Arg282Aspfs	NC_000005.9:g.131722731delC	-	C0342788 212140 Renal carnitine transport defect
NM_003060.3(SLC22A5):c.844C>T (p.Arg282Ter)	6584	SLC22A5	Pathogenic	121908886	RCV000006785;	N	MedGen:C0342788,OMIM:212140,ORPHA:158,SNOMED CT:21764004	5	131722736	131722736	NM_003060.3:c.844C>T	NP_003051.1:p.Arg282Ter	NC_000005.9:g.131722736C>T	ARUP_SLC22A5:NM_003060.2:c.844C>T,OMIM Allelic Variant:603377.0008	C0342788 212140 Renal carnitine transport defect
NM_003060.3(SLC22A5):c.845G>A (p.Arg282Gln)	6584	SLC22A5	Pathogenic	386134210	RCV000022354;	N	MedGen:C0342788,OMIM:212140,ORPHA:158,SNOMED CT:21764004	5	131722737	131722737	NM_003060.3:c.845G>A	NP_003051.1:p.Arg282Gln	NC_000005.9:g.131722737G>A	ARUP_SLC22A5:NM_003060.2:c.845G>A	C0342788 212140 Renal carnitine transport defect
NM_003060.3(SLC22A5):c.847T>C (p.Trp283Arg)	6584	SLC22A5	not provided	72552729	RCV000022355;	N	MedGen:C0342788,OMIM:212140,ORPHA:158,SNOMED CT:21764004	5	131722739	131722739	NM_003060.3:c.847T>C	NP_003051.1:p.Trp283Arg	NC_000005.9:g.131722739T>A,NC_000005.9:g.131722739T>C	ARUP_SLC22A5:NM_003060.2:c.847T>C	C0342788 212140 Renal carnitine transport defect
NM_003060.3(SLC22A5):c.847T>A (p.Trp283Arg)	6584	SLC22A5	not provided	72552729	RCV000032092;	N	MedGen:C0342788,OMIM:212140,ORPHA:158,SNOMED CT:21764004	5	131722739	131722739	NM_003060.3:c.847T>A	NP_003051.1:p.Trp283Arg	NC_000005.9:g.131722739T>A,NC_000005.9:g.131722739T>C	ARUP_SLC22A5:NM_003060.2:c.847T>A	C0342788 212140 Renal carnitine transport defect
NM_003060.3(SLC22A5):c.849G>T (p.Trp283Cys)	6584	SLC22A5	not provided	386134211	RCV000022356;	N	MedGen:C0342788,OMIM:212140,ORPHA:158,SNOMED CT:21764004	5	131722741	131722741	NM_003060.3:c.849G>T	NP_003051.1:p.Trp283Cys	NC_000005.9:g.131722741G>T	ARUP_SLC22A5:NM_003060.2:c.849G>T	C0342788 212140 Renal carnitine transport defect
NM_003060.3(SLC22A5):c.865C>T (p.Arg289Ter)	6584	SLC22A5	Pathogenic	386134212	RCV000022357; RCV000186141;	N	MedGen:C0342788,OMIM:212140,ORPHA:158,SNOMED CT:21764004; MedGen:CN221809	5	131722757	131722757	NM_003060.3:c.865C>T	NP_003051.1:p.Arg289Ter	NC_000005.9:g.131722757C>T	ARUP_SLC22A5:NM_003060.2:c.865C>T	CN221809 not provided; C0342788 212140 Renal carnitine transport defect
NM_003060.3(SLC22A5):c.902C>A (p.Ala301Asp)	6584	SLC22A5	not provided	72552730	RCV000022358;	N	MedGen:C0342788,OMIM:212140,ORPHA:158,SNOMED CT:21764004	5	131722794	131722794	NM_003060.3:c.902C>A	NP_003051.1:p.Ala301Asp	NC_000005.9:g.131722794C>A	ARUP_SLC22A5:NM_003060.2:c.902C>A	C0342788 212140 Renal carnitine transport defect
NM_003060.3(SLC22A5):c.1009delA (p.Thr337Profs)	6584	SLC22A5	not provided	386134213	RCV000022359;	N	MedGen:C0342788,OMIM:212140,ORPHA:158,SNOMED CT:21764004	5	131724670	131724670	NM_003060.3:c.1009delA	NP_003051.1:p.Thr337Profs	NC_000005.9:g.131724670delA	-	C0342788 212140 Renal carnitine transport defect
NM_003060.3(SLC22A5):c.1043T>C (p.Ile348Thr)	6584	SLC22A5	not provided	150544263	RCV000022361;	N	MedGen:C0342788,OMIM:212140,ORPHA:158,SNOMED CT:21764004	5	131724704	131724704	NM_003060.3:c.1043T>C	NP_003051.1:p.Ile348Thr	NC_000005.9:g.131724704T>C	ARUP_SLC22A5:NM_003060.2:c.1043T>C	C0342788 212140 Renal carnitine transport defect
NM_003060.3(SLC22A5):c.1051T>C (p.Trp351Arg)	6584	SLC22A5	Pathogenic	68018207	RCV000006792;	N	MedGen:C0342788,OMIM:212140,ORPHA:158,SNOMED CT:21764004	5	131724712	131724712	NM_003060.3:c.1051T>C	NP_003051.1:p.Trp351Arg	NC_000005.9:g.131724712T>C	ARUP_SLC22A5:NM_003060.2:c.1051T>C,OMIM Allelic Variant:603377.0015	C0342788 212140 Renal carnitine transport defect
NM_003060.3(SLC22A5):c.1088T>C (p.Leu363Pro)	6584	SLC22A5	not provided	386134214	RCV000022362;	N	MedGen:C0342788,OMIM:212140,ORPHA:158,SNOMED CT:21764004	5	131726417	131726417	NM_003060.3:c.1088T>C	NP_003051.1:p.Leu363Pro	NC_000005.9:g.131726417T>C	ARUP_SLC22A5:NM_003060.2:c.1088T>C	C0342788 212140 Renal carnitine transport defect
NM_003060.3(SLC22A5):c.1161T>G (p.Tyr387Ter)	6584	SLC22A5	not provided	72552731	RCV000022363;	N	MedGen:C0342788,OMIM:212140,ORPHA:158,SNOMED CT:21764004	5	131726490	131726490	NM_003060.3:c.1161T>G	NP_003051.1:p.Tyr387Ter	NC_000005.9:g.131726490T>G	ARUP_SLC22A5:NM_003060.2:c.1161T>G	C0342788 212140 Renal carnitine transport defect
NM_003060.3(SLC22A5):c.1181_1183delTGC (p.Leu394del)	6584	SLC22A5	Likely pathogenic	386134215	RCV000022364; RCV000186156;	N	MedGen:C0342788,OMIM:212140,ORPHA:158,SNOMED CT:21764004; MedGen:CN221809	5	131726510	131726512	NM_003060.3:c.1181_1183delTGC	NP_003051.1:p.Leu394del	NC_000005.9:g.131726510_131726512delTGC	-	CN221809 not provided; C0342788 212140 Renal carnitine transport defect
NM_003060.3(SLC22A5):c.1193C>T (p.Pro398Leu)	6584	SLC22A5	Likely pathogenic;Pathogenic	144547521	RCV000022365;	N	MedGen:C0342788,OMIM:212140,ORPHA:158,SNOMED CT:21764004	5	131726522	131726522	NM_003060.3:c.1193C>T	NP_003051.1:p.Pro398Leu	NC_000005.9:g.131726522C>T	ARUP_SLC22A5:NM_003060.2:c.1193C>T,HGMD:CM061982	C0342788 212140 Renal carnitine transport defect
NM_003060.3(SLC22A5):c.1195C>T (p.Arg399Trp)	6584	SLC22A5	Pathogenic	267607054	RCV000006796; RCV000186144;	N	MedGen:C0342788,OMIM:212140,ORPHA:158,SNOMED CT:21764004; MedGen:CN221809	5	131726524	131726524	NM_003060.3:c.1195C>T	NP_003051.1:p.Arg399Trp	NC_000005.9:g.131726524C>T	ARUP_SLC22A5:NM_003060.2:c.1195C>T,OMIM Allelic Variant:603377.0020	CN221809 not provided; C0342788 212140 Renal carnitine transport defect
NM_003060.3(SLC22A5):c.1196G>A (p.Arg399Gln)	6584	SLC22A5	Pathogenic	121908891	RCV000006793;	N	MedGen:C0342788,OMIM:212140,ORPHA:158,SNOMED CT:21764004	5	131726525	131726525	NM_003060.3:c.1196G>A	NP_003051.1:p.Arg399Gln	NC_000005.9:g.131726525G>A	ARUP_SLC22A5:NM_003060.2:c.1196G>A,OMIM Allelic Variant:603377.0016	C0342788 212140 Renal carnitine transport defect
NM_003060.3(SLC22A5):c.1202dupA (p.Tyr401Terfs)	6584	SLC22A5	Likely pathogenic;Pathogenic	121908887	RCV000006786;	N	MedGen:C0342788,OMIM:212140,ORPHA:158,SNOMED CT:21764004	5	131726531	131726531	NM_003060.3:c.1202dupA	NP_003051.1:p.Tyr401Terfs	NC_000005.9:g.131726531dupA	HGMD:CI992080,OMIM Allelic Variant:603377.0009	C0342788 212140 Renal carnitine transport defect
NM_003060.3(SLC22A5):c.1267+3_1267+23del	6584	SLC22A5	not provided	386134216	RCV000022369;	N	MedGen:C0342788,OMIM:212140,ORPHA:158,SNOMED CT:21764004	5	131726599	131726619	NM_003060.3:c.1267+3_1267+23del		NC_000005.9:g.131726599_131726619del21	-	C0342788 212140 Renal carnitine transport defect
NM_003060.3(SLC22A5):c.1268-34A>G	6584	SLC22A5	not provided	11568515	RCV000022370;	N	MedGen:C0342788,OMIM:212140,ORPHA:158,SNOMED CT:21764004	5	131728091	131728091	NM_003060.3:c.1268-34A>G		NC_000005.9:g.131728091A>G	-	C0342788 212140 Renal carnitine transport defect
NM_003060.3(SLC22A5):c.1304delG (p.Gly435Alafs)	6584	SLC22A5	Pathogenic	386134217	RCV000006787;	N	MedGen:C0342788,OMIM:212140,ORPHA:158,SNOMED CT:21764004	5	131728161	131728161	NM_003060.3:c.1304delG	NP_003051.1:p.Gly435Alafs	NC_000005.9:g.131728161delG	OMIM Allelic Variant:603377.0010	C0342788 212140 Renal carnitine transport defect
NM_003060.3(SLC22A5):c.1319C>T (p.Thr440Met)	6584	SLC22A5	Pathogenic	72552732	RCV000022372;	N	MedGen:C0342788,OMIM:212140,ORPHA:158,SNOMED CT:21764004	5	131728176	131728176	NM_003060.3:c.1319C>T	NP_003051.1:p.Thr440Met	NC_000005.9:g.131728176C>T	ARUP_SLC22A5:NM_003060.2:c.1319C>T,HGMD:CM021680	C0342788 212140 Renal carnitine transport defect
NM_003060.3(SLC22A5):c.1324_1325delGCinsAT (p.Ala442Ile)	6584	SLC22A5	Pathogenic;Uncertain significance	267607053	RCV000006797; RCV000186157;	N	MedGen:C0342788,OMIM:212140,ORPHA:158,SNOMED CT:21764004; MedGen:CN169374	5	131728181	131728182	NM_003060.3:c.1324_1325delGCinsAT	NP_003051.1:p.Ala442Ile	NC_000005.9:g.131728181_131728182delGCinsAT	OMIM Allelic Variant:603377.0021	CN169374 not specified; C0342788 212140 Renal carnitine transport defect
NM_003060.3(SLC22A5):c.1336G>T (p.Val446Phe)	6584	SLC22A5	not provided	72552733	RCV000022373;	N	MedGen:C0342788,OMIM:212140,ORPHA:158,SNOMED CT:21764004	5	131728193	131728193	NM_003060.3:c.1336G>T	NP_003051.1:p.Val446Phe	NC_000005.9:g.131728193G>T	ARUP_SLC22A5:NM_003060.2:c.1336G>T	C0342788 212140 Renal carnitine transport defect
NM_003060.3(SLC22A5):c.1340A>G (p.Tyr447Cys)	6584	SLC22A5	Likely pathogenic	386134218	RCV000022374;	N	MedGen:C0342788,OMIM:212140,ORPHA:158,SNOMED CT:21764004	5	131728197	131728197	NM_003060.3:c.1340A>G	NP_003051.1:p.Tyr447Cys	NC_000005.9:g.131728197A>G	ARUP_SLC22A5:NM_003060.2:c.1340A>G	C0342788 212140 Renal carnitine transport defect
NM_003060.3(SLC22A5):c.1342G>T (p.Val448Leu)	6584	SLC22A5	not provided	386134219	RCV000022375;	N	MedGen:C0342788,OMIM:212140,ORPHA:158,SNOMED CT:21764004	5	131728199	131728199	NM_003060.3:c.1342G>T	NP_003051.1:p.Val448Leu	NC_000005.9:g.131728199G>T	ARUP_SLC22A5:NM_003060.2:c.1342G>T	C0342788 212140 Renal carnitine transport defect
NM_003060.3(SLC22A5):c.1345T>G (p.Tyr449Asp)	6584	SLC22A5	Pathogenic;Uncertain significance	11568514	RCV000022376; RCV000080049;	N	MedGen:C0342788,OMIM:212140,ORPHA:158,SNOMED CT:21764004; MedGen:CN221809	5	131728202	131728202	NM_003060.3:c.1345T>G	NP_003051.1:p.Tyr449Asp	NC_000005.9:g.131728202T>G	ARUP_SLC22A5:NM_003060.2:c.1345T>G,HGMD:CM051225	CN221809 not provided; C0342788 212140 Renal carnitine transport defect
NM_003060.3(SLC22A5):c.1354G>A (p.Glu452Lys)	6584	SLC22A5	Likely pathogenic;Uncertain significance	72552734	RCV000022377; RCV000153964;	N	MedGen:C0342788,OMIM:212140,ORPHA:158,SNOMED CT:21764004; MedGen:CN221809	5	131728211	131728211	NM_003060.3:c.1354G>A	NP_003051.1:p.Glu452Lys	NC_000005.9:g.131728211G>A	ARUP_SLC22A5:NM_003060.2:c.1354G>A,HGMD:CM000571	CN221809 not provided; C0342788 212140 Renal carnitine transport defect
NM_003060.3(SLC22A5):c.1392_1409del18insCA (p.Val465Thrfs)	6584	SLC22A5	not provided	386134220	RCV000022378;	N	MedGen:C0342788,OMIM:212140,ORPHA:158,SNOMED CT:21764004	5	131728249	131728266	NM_003060.3:c.1392_1409del18insCA	NP_003051.1:p.Val465Thrfs	NC_000005.9:g.131728249_131728266del18insCA	-	C0342788 212140 Renal carnitine transport defect
NM_003060.3(SLC22A5):c.1400C>G (p.Ser467Cys)	6584	SLC22A5	Pathogenic	60376624	RCV000022379;	N	MedGen:C0342788,OMIM:212140,ORPHA:158,SNOMED CT:21764004	5	131728257	131728257	NM_003060.3:c.1400C>G	NP_003051.1:p.Ser467Cys	NC_000005.9:g.131728257C>G	ARUP_SLC22A5:NM_003060.2:c.1400C>G,HGMD:CM992670	C0342788 212140 Renal carnitine transport defect
NM_003060.3(SLC22A5):c.1403C>G (p.Thr468Arg)	6584	SLC22A5	Likely pathogenic	386134221	RCV000022380;	N	MedGen:C0342788,OMIM:212140,ORPHA:158,SNOMED CT:21764004	5	131728260	131728260	NM_003060.3:c.1403C>G	NP_003051.1:p.Thr468Arg	NC_000005.9:g.131728260C>G	ARUP_SLC22A5:NM_003060.2:c.1403C>G	C0342788 212140 Renal carnitine transport defect
NM_003060.3(SLC22A5):c.1409C>T (p.Ser470Phe)	6584	SLC22A5	not provided	386134222	RCV000022381;	N	MedGen:C0342788,OMIM:212140,ORPHA:158,SNOMED CT:21764004	5	131728266	131728266	NM_003060.3:c.1409C>T	NP_003051.1:p.Ser470Phe	NC_000005.9:g.131728266C>T	ARUP_SLC22A5:NM_003060.2:c.1409C>T	C0342788 212140 Renal carnitine transport defect
NM_003060.3(SLC22A5):c.1412G>A (p.Arg471His)	6584	SLC22A5	not provided	386134223	RCV000022382;	N	MedGen:C0342788,OMIM:212140,ORPHA:158,SNOMED CT:21764004	5	131728269	131728269	NM_003060.3:c.1412G>A	NP_003051.1:p.Arg471His	NC_000005.9:g.131728269G>A	ARUP_SLC22A5:NM_003060.2:c.1412G>A	C0342788 212140 Renal carnitine transport defect
NM_003060.3(SLC22A5):c.1433C>T (p.Pro478Leu)	6584	SLC22A5	Pathogenic	72552735	RCV000006788;	N	MedGen:C0342788,OMIM:212140,ORPHA:158,SNOMED CT:21764004	5	131728290	131728290	NM_003060.3:c.1433C>T	NP_003051.1:p.Pro478Leu	NC_000005.9:g.131728290C>T	ARUP_SLC22A5:NM_003060.2:c.1433C>T,OMIM Allelic Variant:603377.0011	C0342788 212140 Renal carnitine transport defect
NM_003060.3(SLC22A5):c.1441G>T (p.Val481Phe)	6584	SLC22A5	not provided	11568513	RCV000022384;	N	MedGen:C0342788,OMIM:212140,ORPHA:158,SNOMED CT:21764004	5	131728298	131728298	NM_003060.3:c.1441G>T	NP_003051.1:p.Val481Phe	NC_000005.9:g.131728298G>T	ARUP_SLC22A5:NM_003060.2:c.1441G>T	C0342788 212140 Renal carnitine transport defect
NM_003060.3(SLC22A5):c.1451-1G>A	6584	SLC22A5	not provided	386134224	RCV000022385;	N	MedGen:C0342788,OMIM:212140,ORPHA:158,SNOMED CT:21764004	5	131729367	131729367	NM_003060.3:c.1451-1G>A		NC_000005.9:g.131729367G>A	ARUP_SLC22A5:NM_003060.2:c.1451-1G>A	C0342788 212140 Renal carnitine transport defect
NM_003060.3(SLC22A5):c.1463G>A (p.Arg488His)	6584	SLC22A5	Pathogenic	28383481	RCV000022386;	N	MedGen:C0342788,OMIM:212140,ORPHA:158,SNOMED CT:21764004	5	131729380	131729380	NM_003060.3:c.1463G>A	NP_003051.1:p.Arg488His	NC_000005.9:g.131729380G>A	ARUP_SLC22A5:NM_003060.2:c.1463G>A,HGMD:CM061984	C0342788 212140 Renal carnitine transport defect
NM_003060.3(SLC22A5):c.1556_1559dupACAC (p.Ile521Hisfs)	6584	SLC22A5	Likely pathogenic	386134225	RCV000022387;	N	MedGen:C0342788,OMIM:212140,ORPHA:158,SNOMED CT:21764004	5	131729473	131729476	NM_003060.3:c.1556_1559dupACAC	NP_003051.1:p.Ile521Hisfs	NC_000005.9:g.131729473_131729476dupACAC	-	C0342788 212140 Renal carnitine transport defect
NM_003060.3(SLC22A5):c.1586+1G>T	6584	SLC22A5	not provided	386134226	RCV000022388;	N	MedGen:C0342788,OMIM:212140,ORPHA:158,SNOMED CT:21764004	5	131729504	131729504	NM_003060.3:c.1586+1G>T		NC_000005.9:g.131729504G>T	ARUP_SLC22A5:NM_003060.2:c.1586+1G>T	C0342788 212140 Renal carnitine transport defect
NM_003060.3(SLC22A5):c.1587-38A>C	6584	SLC22A5	not provided	11568523	RCV000022389;	N	MedGen:C0342788,OMIM:212140,ORPHA:158,SNOMED CT:21764004	5	131729839	131729839	NM_003060.3:c.1587-38A>C		NC_000005.9:g.131729839A>C	-	C0342788 212140 Renal carnitine transport defect
NM_003060.3(SLC22A5):c.1645C>T (p.Pro549Ser)	6584	SLC22A5	Benign	11568525	RCV000022390; RCV000128068;	N	MedGen:C0342788,OMIM:212140,ORPHA:158,SNOMED CT:21764004; MedGen:CN169374	5	131729935	131729935	NM_003060.3:c.1645C>T	NP_003051.1:p.Pro549Ser	NC_000005.9:g.131729935C>T	ARUP_SLC22A5:NM_003060.2:c.1645C>T	CN169374 not specified; C0342788 212140 Renal carnitine transport defect
NM_003060.3(SLC22A5):c.*47C>T	6584	SLC22A5	not provided	1045020	RCV000022391;	N	MedGen:C0342788,OMIM:212140,ORPHA:158,SNOMED CT:21764004	5	131730011	131730011	NM_003060.3:c.*47C>T		NC_000005.9:g.131730011C>T	-	C0342788 212140 Renal carnitine transport defect