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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

MSeqDR Mitochondrial Disease Portal

*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO

Disease Browser
Parent Node: Hypoglycemia (D007003)
Parent Node: Lipid Metabolism, Inborn Errors (D008052)
..Starting node ..Carnitine palmitoyl transferase 1A deficiency (C535588)
Child Nodes:
Sister Nodes:
..2,4-Dienoyl-CoA Reductase Deficiency (C565624)
..Acetyl-Coa Carboxylase Deficiency (C562678)
..Alpha-Methylacyl-CoA Racemase Deficiency (C565768)
..Apolipoprotein E, Deficiency or Defect of (C566260)
..Barth Syndrome (D056889) 2 L: 00399;
..Carnitine palmitoyl transferase 1A deficiency (C535588) L: 00440;
..Carnitine Palmitoyltransferase II Deficiency, Infantile (C563462) L: 00466;
..Carnitine Palmitoyltransferase II Deficiency, Late-Onset (C563461) L: 00486;
..Carnitine-Acylcarnitine Translocase Deficiency (C562812) L: 00437;
..Chanarin-Dorfman Syndrome (C536560)
..Cholesteryl Ester Transfer Protein Deficiency (C564591)
..Cytosolic acetoacetyl-CoA thiolase deficiency (C536005)
..Desmosterolosis (C566555)
..GLYCOSYLPHOSPHATIDYLINOSITOL DEFICIENCY (OMIM:610293)
..HEPATIC LIPASE DEFICIENCY (OMIM:614025)
..Hyperlipidemia, Familial Combined (D006950) 2
..Hyperlipoproteinemia Type I (D008072) 1
..Hyperlipoproteinemia Type II (D006938) 4
..Hyperlipoproteinemia Type III (D006952)
..Hyperlipoproteinemia Type IV (D006953)
..Hyperlipoproteinemia Type V (D006954)
..Hypolipoproteinemias (D007009) 14
..Lipase deficiency combined (C535904)
..Lipidoses (D008064) 71
..Lipodystrophy, Congenital Generalized (D052497) 3
..Long-chain acyl-CoA dehydrogenase deficiency (C535690)
..Lp(A) Deficiency, Congenital (C563618)
..Medium chain acyl CoA dehydrogenase deficiency (C536038) L: 00434;
..Myopathy with Abnormal Lipid Metabolism (C562935)
..Neutral Lipid Storage Disease with Myopathy (C565192)
..PANCREATIC LIPASE DEFICIENCY (OMIM:614338)
..Peroxisomal ACYL-COA oxidase deficiency (C536662)
..Short chain Acyl CoA dehydrogenase deficiency (C537596) L: 00435;
..Sitosterolemia (C537345)
..Smith-Lemli-Opitz Syndrome (D019082) 1
..Trifunctional Protein Deficiency With Myopathy And Neuropathy (C566945) L: 00417;
..Triglyceride Storage Disease, Type I (C566031)
..Triglyceride Storage Disease, Type II (C566030)
..VLCAD deficiency (C536353) L: 00436;
..Xanthomatosis, Cerebrotendinous (D019294)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

1920

Name:

Carnitine palmitoyl transferase 1A deficiency

Definition:

Alternative IDs:

OMIM:255120

ParentIDs:

MESH:D007003|MESH:D008052

TreeNumbers:

C16.320.565.398/C535588 |C18.452.394.984/C535588 |C18.452.584.562/C535588 |C18.452.648.398/C535588

Synonyms:

Slim Mappings:

Genetic disease (inborn)|Metabolic disease

Reference:

MedGen: C535588
MeSH: C535588
OMIM: 255120;
MSeqDR : 00440;
Genes: CPT1A;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0011675	Arrhythmia NAMDC: Cardiac conduction block
3	HP:0001640	Cardiomegaly
4	HP:0001259	Coma
5	HP:0002014	Diarrhea
6	HP:0002910	Elevated hepatic transaminases
7	HP:0003236	Elevated serum creatine phosphokinase
8	HP:0008872	Feeding difficulties in infancy
9	HP:0001290	Generalized hypotonia
10	HP:0001397	Hepatic steatosis NAMDC: Hepatopathy with steatosis or oncocytic changes by liver biopsy
11	HP:0002240	Hepatomegaly
12	HP:0001987	Hyperammonemia
13	HP:0001985	Hypoketotic hypoglycemia
14	HP:0001254	Lethargy
15	HP:0001252	Muscular hypotonia NAMDC: Hypotonia
16	HP:0002686	Prenatal maternal abnormality
17	HP:0007335	Recurrent encephalopathy
18	HP:0001947	Renal tubular acidosis NAMDC: Renal tubular acidosis
19	HP:0001250	Seizures NAMDC: Seizures
20	HP:0008279	Transient hyperlipidemia

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
NC_000011.9:g.(?_68522274)_(68530239_?)del	1374	CPT1A	Pathogenic	-1	RCV001949321;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68522274	68530239	na	na	-1	-
NC_000011.9:g.(?_68525112)_(68582942_?)del	1374	CPT1A	Pathogenic	-1	RCV001946638;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68525112	68582942	na	na	-1	-
NM_001876.4(CPT1A):c.2322A>G (p.Ter774=)	1374	CPT1A	Likely benign	-1	RCV002187430;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68525112	68525112	T	C	68525112	-
NM_001876.4(CPT1A):c.2313C>T (p.Ser771=)	1374	CPT1A	Likely benign	-1	RCV002079940;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68525121	68525121	G	A	68525121	-
NM_001876.4(CPT1A):c.2293T>C (p.Phe765Leu)	1374	CPT1A	Uncertain significance	rs1946717191	RCV001034856;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68525141	68525141	A	G	11:g.68525141A>G	-
NM_001876.4(CPT1A):c.2283C>T (p.Ile761=)	1374	CPT1A	Likely benign	-1	RCV001480265;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68525151	68525151	G	A	68525151	-
NM_001876.4(CPT1A):c.2280C>T (p.Asp760=)	1374	CPT1A	Likely benign	-1	RCV001447294;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68525154	68525154	G	A	68525154	-
NM_001876.4(CPT1A):c.2271A>C (p.Ala757=)	1374	CPT1A	Likely benign	-1	RCV002172684;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68525163	68525163	T	G	68525163	-
NM_001876.4(CPT1A):c.2259_2261dup (p.Leu754dup)	1374	CPT1A	Likely pathogenic	rs1594313040	RCV000988590;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68525172	68525173	C	CAGG	11:g.68525172_68525173insAGG	-
NM_001876.4(CPT1A):c.2260C>T (p.Leu754=)	1374	CPT1A	Likely benign	rs144781827	RCV000900095\|RCV001704751;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156\|MedGen:CN517202	11	68525174	68525174	G	A	11:g.68525174G>A	ClinGen:CA6152022	CN169374 not specified;
NM_001876.4(CPT1A):c.2259C>T (p.His753=)	1374	CPT1A	Likely benign	-1	RCV002098534;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68525175	68525175	G	A	68525175	-
NM_001876.4(CPT1A):c.2244T>C (p.His748=)	1374	CPT1A	Likely benign	-1	RCV001504743;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68525190	68525190	A	G	68525190	-
NM_001876.4(CPT1A):c.2243A>T (p.His748Leu)	1374	CPT1A	Uncertain significance	rs900349852	RCV001234327;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68525191	68525191	T	A	11:g.68525191T>A	-
NM_001876.4(CPT1A):c.2238T>G (p.Asp746Glu)	1374	CPT1A	Uncertain significance	-1	RCV001359932;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68525196	68525196	A	C	68525196	-
NM_001876.4(CPT1A):c.2236-1G>A	1374	CPT1A	Uncertain significance	rs1555226004	RCV000669252;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68525199	68525199	C	T	11:g.68525199C>T	-	C0342789 255120 Carnitine palmitoyltransferase I deficiency;
NM_001876.4(CPT1A):c.2236-7A>G	1374	CPT1A	Likely benign	-1	RCV002086784;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68525205	68525205	T	C	68525205	-
NM_001876.4(CPT1A):c.2236-14T>G	1374	CPT1A	Likely benign	-1	RCV002195407;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68525212	68525212	A	C	68525212	-
NM_001876.4(CPT1A):c.2235+9G>A	1374	CPT1A	Uncertain significance	rs1946761066	RCV001279742;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68527028	68527028	C	T	11:g.68527028C>T	-
NM_001876.4(CPT1A):c.2235+4T>C	1374	CPT1A	Conflicting interpretations of pathogenicity	rs755308448	RCV000609082\|RCV000687180;	N	MedGen:CN169374\|MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68527033	68527033	A	G	11:g.68527033A>G	ClinGen:CA6152040	C1829703 Carnitine palmitoyl transferase 1 deficiency;
NM_001876.4(CPT1A):c.2235G>A (p.Thr745=)	1374	CPT1A	Uncertain significance	rs202208941	RCV001279743\|RCV001356689;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156\|MedGen:CN517202	11	68527037	68527037	C	T	11:g.68527037C>T	-
NM_001876.4(CPT1A):c.2223T>C (p.Ser741=)	1374	CPT1A	Likely benign	-1	RCV001463255;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68527049	68527049	A	G	68527049	-
NM_001876.4(CPT1A):c.2205C>T (p.His735=)	1374	CPT1A	Likely benign	-1	RCV002088613;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68527067	68527067	G	A	68527067	-
NM_001876.4(CPT1A):c.2198A>G (p.Asn733Ser)	1374	CPT1A	Conflicting interpretations of pathogenicity	rs151271754	RCV000175297\|RCV001081801;	N	MedGen:CN517202\|MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68527074	68527074	T	C	11:g.68527074T>C	ClinGen:CA241021	CN169374 not specified;
NM_001876.4(CPT1A):c.2178T>C (p.Leu726=)	1374	CPT1A	Likely benign	rs200501379	RCV000931074;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68527094	68527094	A	G	11:g.68527094A>G	-
NM_001876.4(CPT1A):c.2173A>G (p.Ile725Val)	1374	CPT1A	Likely benign	rs773269662	RCV000977436;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68527099	68527099	T	C	11:g.68527099T>C	-
NM_001876.4(CPT1A):c.2172C>T (p.Tyr724=)	1374	CPT1A	Likely benign	-1	RCV002075731;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68527100	68527100	G	A	68527100	-
NM_001876.4(CPT1A):c.2169G>A (p.Ser723=)	1374	CPT1A	Likely benign	-1	RCV002180657;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68527103	68527103	C	T	68527103	-
NM_001876.4(CPT1A):c.2166G>A (p.Val722=)	1374	CPT1A	Likely benign	-1	RCV002125557;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68527106	68527106	C	T	68527106	-
NM_001876.4(CPT1A):c.2154C>T (p.Asp718=)	1374	CPT1A	Likely benign	-1	RCV001456205;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68527118	68527118	G	A	68527118	-
NM_001876.4(CPT1A):c.2148T>C (p.Ala716=)	1374	CPT1A	Likely benign	-1	RCV001399924;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68527124	68527124	A	G	68527124	-
NM_001876.4(CPT1A):c.2143-6C>T	1374	CPT1A	Likely benign	-1	RCV002132950;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68527135	68527135	G	A	68527135	-
NM_001876.4(CPT1A):c.2142+93C>T	1374	CPT1A	Benign	-1	RCV001533354\|RCV001536716;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156\|MedGen:CN517202	11	68527600	68527600	G	A	68527600	-
NM_001876.4(CPT1A):c.2142+11C>T	1374	CPT1A	Uncertain significance	-1	RCV001891645;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68527682	68527682	G	A	68527682	-
NM_001876.4(CPT1A):c.2142+9G>A	1374	CPT1A	Likely benign	rs753764564	RCV000434869\|RCV000877682;	N	MedGen:CN169374\|MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68527684	68527684	C	T	11:g.68527684C>T	ClinGen:CA6152084	CN169374 not specified;
NM_001876.4(CPT1A):c.2142+8C>T	1374	CPT1A	Benign/Likely benign	rs147563740	RCV000367091\|RCV000639504\|RCV001092910;	N	MedGen:CN169374\|MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156\|MedGen:CN517202	11	68527685	68527685	G	A	11:g.68527685G>A	ClinGen:CA6152085	C1829703 Carnitine palmitoyl transferase 1 deficiency;
NM_001876.4(CPT1A):c.2142+8C>A	1374	CPT1A	Likely benign	-1	RCV001468694;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68527685	68527685	G	T	68527685	-
NM_001876.4(CPT1A):c.2142+6T>C	1374	CPT1A	Uncertain significance	rs777779540	RCV001317845;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68527687	68527687	A	G	68527687	-
NM_001876.4(CPT1A):c.2142G>A (p.Pro714=)	1374	CPT1A	Conflicting interpretations of pathogenicity	rs150792109	RCV000429343\|RCV000792417;	N	MedGen:CN169374\|MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68527693	68527693	C	T	NC_000011.9:g.68527693C>T	ClinGen:CA6152088	CN169374 not specified;
NM_001876.4(CPT1A):c.2129G>A (p.Gly710Glu)	1374	CPT1A	Pathogenic/Likely pathogenic	rs80356780	RCV000009638\|RCV000723829;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156\|MedGen:CN517202	11	68527706	68527706	C	T	11:g.68527706C>T	ClinGen:CA340863,UniProtKB:P50416#VAR_020559,OMIM:600528.0011	C0342789 255120 Carnitine palmitoyltransferase I deficiency;
NM_001876.4(CPT1A):c.2126G>A (p.Gly709Glu)	1374	CPT1A	Pathogenic	rs28936374	RCV000009636;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68527709	68527709	C	T	11:g.68527709C>T	ClinGen:CA340860,UniProtKB:P50416#VAR_020558,OMIM:600528.0009	C0342789 255120 Carnitine palmitoyltransferase I deficiency;
NM_001876.4(CPT1A):c.2124C>T (p.Ser708=)	1374	CPT1A	Likely benign	rs773748237	RCV000944785\|RCV001503270;	N	MedGen:CN517202\|MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68527711	68527711	G	A	11:g.68527711G>A	-
NM_001876.4(CPT1A):c.2124C>A (p.Ser708Arg)	1374	CPT1A	Uncertain significance	rs773748237	RCV001067757;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68527711	68527711	G	T	11:g.68527711G>T	-
NM_001876.4(CPT1A):c.2115C>T (p.Tyr705=)	1374	CPT1A	Likely benign	-1	RCV001444926;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68527720	68527720	G	A	68527720	-
NM_001031847.2(CPT1A):c.(?_1744)_2107del (p.Met582Glnfs)	1374	CPT1A	Pathogenic	-1	RCV000009635;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68527728	68536100	na	na		dbVar:nssv1415013,OMIM:600528.0008	C0342789 255120 Carnitine palmitoyltransferase I deficiency;
NM_001876.4(CPT1A):c.2103T>C (p.Asn701=)	1374	CPT1A	Likely benign	-1	RCV002092575;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68527732	68527732	A	G	68527732	-
NM_001876.4(CPT1A):c.2100G>A (p.Glu700=)	1374	CPT1A	Benign	-1	RCV001515268;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68527735	68527735	C	T	68527735	-
NM_001876.4(CPT1A):c.2090T>C (p.Phe697Ser)	1374	CPT1A	Uncertain significance	-1	RCV001947692;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68527745	68527745	A	G	68527745	-
NM_001876.4(CPT1A):c.2088G>C (p.Leu696=)	1374	CPT1A	Likely benign	-1	RCV001399983;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68527747	68527747	C	G	68527747	-
NM_001876.4(CPT1A):c.2088G>A (p.Leu696=)	1374	CPT1A	Likely benign	-1	RCV001396961;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68527747	68527747	C	T	68527747	-
NM_001876.4(CPT1A):c.2084A>G (p.Glu695Gly)	1374	CPT1A	Uncertain significance	-1	RCV002029592;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68527751	68527751	T	C	68527751	-
NM_001876.4(CPT1A):c.2082G>A (p.Val694=)	1374	CPT1A	Likely benign	-1	RCV002209706;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68527753	68527753	C	T	68527753	-
NM_001876.4(CPT1A):c.2071C>T (p.Gln691Ter)	1374	CPT1A	Pathogenic/Likely pathogenic	rs765161206	RCV000409477;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68527764	68527764	G	A	NC_000011.9:g.68527764G>A	ClinGen:CA6152102	C0342789 255120 Carnitine palmitoyltransferase I deficiency;
NM_001876.4(CPT1A):c.2067C>G (p.Thr689=)	1374	CPT1A	Likely benign	-1	RCV002120822;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68527768	68527768	G	C	68527768	-
NM_001876.4(CPT1A):c.2061C>G (p.Ser687Arg)	1374	CPT1A	Likely pathogenic	rs1269472669	RCV000550330;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68527774	68527774	G	C	NC_000011.9:g.68527774G>C	ClinGen:CA381626128	C1829703 Carnitine palmitoyl transferase 1 deficiency;
NM_001876.4(CPT1A):c.2037T>C (p.Ser679=)	1374	CPT1A	Likely benign	-1	RCV002183212;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68527798	68527798	A	G	68527798	-
NM_001876.4(CPT1A):c.2031T>A (p.Val677=)	1374	CPT1A	Likely benign	-1	RCV002114622;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68527804	68527804	A	T	68527804	-
NM_001876.4(CPT1A):c.2029-10C>T	1374	CPT1A	Likely benign	-1	RCV001398673;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68527816	68527816	G	A	68527816	-
NM_001876.4(CPT1A):c.2028+9C>T	1374	CPT1A	Likely benign	-1	RCV002090667;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68528994	68528994	G	A	68528994	-
NM_001876.4(CPT1A):c.2028+7C>G	1374	CPT1A	Likely benign	rs768465007	RCV001279745;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68528996	68528996	G	C	11:g.68528996G>C	-
NM_001876.4(CPT1A):c.2028+3_2028+6del	1374	CPT1A	Pathogenic	rs80356799	RCV000055864;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68528997	68529000	GACTT	G	11:g.68528997_68529000del	ClinGen:CA344980	C0342789 255120 Carnitine palmitoyltransferase I deficiency;
NM_001876.4(CPT1A):c.2028+2T>G	1374	CPT1A	Likely pathogenic	rs1555226417	RCV000668441;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68529001	68529001	A	C	11:g.68529001A>C	-	C0342789 255120 Carnitine palmitoyltransferase I deficiency;
NM_001876.4(CPT1A):c.2028+1G>A	1374	CPT1A	Likely pathogenic	-1	RCV001966160;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68529002	68529002	C	T	68529002	-
NM_001876.4(CPT1A):c.2018_2022del (p.Pro672_Phe673insTer)	1374	CPT1A	Pathogenic	-1	RCV001906586;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68529009	68529013	TAAGGA	T	68529008	-
NM_001876.4(CPT1A):c.2013C>A (p.Ser671=)	1374	CPT1A	Likely benign	rs755323437	RCV000903032\|RCV001271631;	N	MedGen:CN517202\|MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68529018	68529018	G	T	11:g.68529018G>T	-
NM_001876.4(CPT1A):c.2013C>T (p.Ser671=)	1374	CPT1A	Likely benign	rs755323437	RCV000979911;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68529018	68529018	G	A	11:g.68529018G>A	-
NM_001876.4(CPT1A):c.2010G>A (p.Glu670=)	1374	CPT1A	Likely benign	-1	RCV001445910;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68529021	68529021	C	T	68529021	-
NM_001876.4(CPT1A):c.2005G>T (p.Val669Leu)	1374	CPT1A	Uncertain significance	-1	RCV001986526;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68529026	68529026	C	A	68529026	-
NM_001876.4(CPT1A):c.2004T>C (p.Ala668=)	1374	CPT1A	Benign	rs2228503	RCV000185823\|RCV000639505;	N	MedGen:CN169374\|MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68529027	68529027	A	G	NC_000011.9:g.68529027A>G	ClinGen:CA312410	C1829703 Carnitine palmitoyl transferase 1 deficiency;
NM_001876.4(CPT1A):c.2001C>T (p.Leu667=)	1374	CPT1A	Likely benign	-1	RCV001403793;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68529030	68529030	G	A	68529030	-
NM_001876.4(CPT1A):c.1997_1998insAAAA (p.Tyr666Ter)	1374	CPT1A	Pathogenic/Likely pathogenic	rs1057516800	RCV000409196;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68529033	68529034	A	ATTTT	NC_000011.9:g.68529034_68529035insTTTT	ClinGen:CA16041534	C0342789 255120 Carnitine palmitoyltransferase I deficiency;
NM_001876.4(CPT1A):c.1984dup (p.Val662fs)	1374	CPT1A	Pathogenic	-1	RCV001951139;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68529046	68529047	A	AC	68529046	-
NM_001876.4(CPT1A):c.1983C>T (p.Tyr661=)	1374	CPT1A	Likely benign	rs374136875	RCV000443677\|RCV000939361;	N	MedGen:CN169374\|MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68529048	68529048	G	A	11:g.68529048G>A	ClinGen:CA6152137	CN169374 not specified;
NM_001876.4(CPT1A):c.1970T>C (p.Leu657Pro)	1374	CPT1A	Uncertain significance	rs1854618343	RCV001072099;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68529061	68529061	A	G	11:g.68529061A>G	-
NM_001876.4(CPT1A):c.1967A>G (p.His656Arg)	1374	CPT1A	Uncertain significance	-1	RCV002008737;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68529064	68529064	T	C	68529064	-
NM_001876.4(CPT1A):c.1960G>A (p.Asp654Asn)	1374	CPT1A	Uncertain significance	-1	RCV001563775;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68529071	68529071	C	T	68529071	-
NM_001876.4(CPT1A):c.1959C>T (p.Ile653=)	1374	CPT1A	Likely benign	rs556392764	RCV000937970;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68529072	68529072	G	A	11:g.68529072G>A	-
NM_001876.4(CPT1A):c.1948G>A (p.Gly650Ser)	1374	CPT1A	Uncertain significance	-1	RCV001954695;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68529083	68529083	C	T	68529083	-
NM_001876.4(CPT1A):c.1947C>T (p.Thr649=)	1374	CPT1A	Likely benign	-1	RCV001477865;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68529084	68529084	G	A	68529084	-
NM_001876.4(CPT1A):c.1947C>G (p.Thr649=)	1374	CPT1A	Likely benign	-1	RCV001466448;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68529084	68529084	G	C	68529084	-
NM_001876.4(CPT1A):c.1946C>T (p.Thr649Ile)	1374	CPT1A	Uncertain significance	-1	RCV001941235;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68529085	68529085	G	A	68529085	-
NM_001876.4(CPT1A):c.1941C>G (p.Ala647=)	1374	CPT1A	Benign	rs115731492	RCV000185822\|RCV000639503;	N	MedGen:CN169374\|MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68529090	68529090	G	C	11:g.68529090G>C	ClinGen:CA312407	C1829703 Carnitine palmitoyl transferase 1 deficiency;
NM_001876.4(CPT1A):c.1933C>T (p.Arg645Cys)	1374	CPT1A	Uncertain significance	-1	RCV001933335;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68529098	68529098	G	A	68529098	-
NM_001876.4(CPT1A):c.1923G>A (p.Gln641=)	1374	CPT1A	Likely benign	-1	RCV002072660;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68529108	68529108	C	T	68529108	-
NM_001876.4(CPT1A):c.1912G>A (p.Glu638Lys)	1374	CPT1A	Uncertain significance	-1	RCV001958299;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68529119	68529119	C	T	68529119	-
NM_001876.4(CPT1A):c.1910C>T (p.Ser637Phe)	1374	CPT1A	Likely benign	rs150459546	RCV000899458;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68529121	68529121	G	A	11:g.68529121G>A	-
NM_001876.4(CPT1A):c.1908G>A (p.Ala636=)	1374	CPT1A	Benign	rs111407620	RCV000315030\|RCV000872599;	N	MedGen:CN169374\|MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68529123	68529123	C	T	11:g.68529123C>T	ClinGen:CA6152154	CN169374 not specified;
NM_001876.4(CPT1A):c.1907C>T (p.Ala636Val)	1374	CPT1A	Uncertain significance	rs775438656	RCV001061474;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68529124	68529124	G	A	11:g.68529124G>A	-
NM_001876.4(CPT1A):c.1903T>C (p.Leu635=)	1374	CPT1A	Likely benign	rs372215145	RCV000944020;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68529128	68529128	A	G	11:g.68529128A>G	-
NM_001876.4(CPT1A):c.1902G>A (p.Lys634=)	1374	CPT1A	Likely benign	-1	RCV002182785;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68529129	68529129	C	T	68529129	-
NM_001876.4(CPT1A):c.1901A>G (p.Lys634Arg)	1374	CPT1A	Uncertain significance	rs1854622463	RCV001279746;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68529130	68529130	T	C	11:g.68529130T>C	-
NM_001876.4(CPT1A):c.1895T>A (p.Leu632Ter)	1374	CPT1A	Pathogenic	-1	RCV001386789;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68529136	68529136	A	T	68529136	-
NM_001876.4(CPT1A):c.1890G>A (p.Leu630=)	1374	CPT1A	Likely benign	-1	RCV001439760;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68529141	68529141	C	T	68529141	-
NM_001876.4(CPT1A):c.1877T>C (p.Val626Ala)	1374	CPT1A	Uncertain significance	rs768746064	RCV001203365;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68529154	68529154	A	G	11:g.68529154A>G	-
NM_001876.4(CPT1A):c.1876G>C (p.Val626Leu)	1374	CPT1A	Uncertain significance	-1	RCV001583352\|RCV001866114;	N	MedGen:CN517202\|MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68529155	68529155	C	G	68529155	-
NM_001876.4(CPT1A):c.1876-1G>A	1374	CPT1A	Likely pathogenic	rs80356798	RCV000009634;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68529156	68529156	C	T	NC_000011.9:g.68529156C>T	ClinGen:CA340858,OMIM:600528.0006	C0342789 255120 Carnitine palmitoyltransferase I deficiency;
NM_001876.4(CPT1A):c.1876-1G>C	1374	CPT1A	Likely pathogenic	rs80356798	RCV000671989;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68529156	68529156	C	G	11:g.68529156C>G	-	C0342789 255120 Carnitine palmitoyltransferase I deficiency;
NM_001876.4(CPT1A):c.1875+10_1875+33del	1374	CPT1A	Likely benign	rs1555226542	RCV000671135;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68530062	68530085	AGCACGTTGTGTCCTCAGCCTGATG	A	11:g.68530062_68530085del	-	C0342789 255120 Carnitine palmitoyltransferase I deficiency;
NM_001876.4(CPT1A):c.1875+11A>G	1374	CPT1A	Likely benign	-1	RCV002165862;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68530084	68530084	T	C	68530084	-
NM_001876.4(CPT1A):c.1874C>T (p.Thr625Met)	1374	CPT1A	Uncertain significance	rs142473901	RCV001233973;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68530096	68530096	G	A	11:g.68530096G>A	-
NM_001876.4(CPT1A):c.1869C>T (p.Ala623=)	1374	CPT1A	Likely benign	-1	RCV001473976;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68530101	68530101	G	A	68530101	-
NM_001876.4(CPT1A):c.1869C>A (p.Ala623=)	1374	CPT1A	Likely benign	-1	RCV002138930;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68530101	68530101	G	T	68530101	-
NM_001876.4(CPT1A):c.1866G>A (p.Pro622=)	1374	CPT1A	Likely benign	-1	RCV002098678;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68530104	68530104	C	T	68530104	-
NM_001876.4(CPT1A):c.1865C>T (p.Pro622Leu)	1374	CPT1A	Uncertain significance	rs776782808	RCV001244969;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68530105	68530105	G	A	11:g.68530105G>A	-
NM_001876.4(CPT1A):c.1854C>A (p.Ala618=)	1374	CPT1A	Likely benign	-1	RCV002137204;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68530116	68530116	G	T	68530116	-
NM_001876.4(CPT1A):c.1854C>T (p.Ala618=)	1374	CPT1A	Likely benign	-1	RCV002218315;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68530116	68530116	G	A	68530116	-
NM_001876.4(CPT1A):c.1851G>A (p.Arg617=)	1374	CPT1A	Likely benign	-1	RCV002101972;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68530119	68530119	C	T	68530119	-
NM_001876.4(CPT1A):c.1850G>A (p.Arg617Gln)	1374	CPT1A	Uncertain significance	rs375224809	RCV001240087;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68530120	68530120	C	T	11:g.68530120C>T	-
NM_001876.4(CPT1A):c.1848G>A (p.Val616=)	1374	CPT1A	Likely benign	-1	RCV001413512;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68530122	68530122	C	T	68530122	-
NM_001876.4(CPT1A):c.1845C>T (p.Phe615=)	1374	CPT1A	Likely benign	rs144747588	RCV000926578;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68530125	68530125	G	A	11:g.68530125G>A	-
NM_001876.4(CPT1A):c.1840G>A (p.Asp614Asn)	1374	CPT1A	Uncertain significance	rs200893871	RCV001278052;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68530130	68530130	C	T	11:g.68530130C>T	-
NM_001876.4(CPT1A):c.1830T>G (p.Thr610=)	1374	CPT1A	Likely benign	-1	RCV002094268;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68530140	68530140	A	C	68530140	-
NM_001876.4(CPT1A):c.1818C>T (p.Arg606=)	1374	CPT1A	Likely benign	-1	RCV001503325;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68530152	68530152	G	A	68530152	-
NM_001876.4(CPT1A):c.1813G>A (p.Val605Met)	1374	CPT1A	Uncertain significance	-1	RCV002005779;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68530157	68530157	C	T	68530157	-
NM_001876.4(CPT1A):c.1812C>T (p.Thr604=)	1374	CPT1A	Likely benign	-1	RCV001425466;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68530158	68530158	G	A	68530158	-
NM_001876.4(CPT1A):c.1806G>A (p.Thr602=)	1374	CPT1A	Likely benign	rs866075317	RCV000877579;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68530164	68530164	C	T	11:g.68530164C>T	-
NM_001876.4(CPT1A):c.1800G>A (p.Gly600=)	1374	CPT1A	Likely benign	-1	RCV001463772;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68530170	68530170	C	T	68530170	-
NM_001876.4(CPT1A):c.1799G>C (p.Gly600Ala)	1374	CPT1A	Uncertain significance	-1	RCV002017725;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68530171	68530171	C	G	68530171	-
NM_001876.4(CPT1A):c.1793G>A (p.Arg598Gln)	1374	CPT1A	Uncertain significance	rs878856345	RCV001247132;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68530177	68530177	C	T	11:g.68530177C>T	-
NM_001876.4(CPT1A):c.1792C>T (p.Arg598Ter)	1374	CPT1A	Pathogenic	rs773153659	RCV000814512;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68530178	68530178	G	A	11:g.68530178G>A	-
NM_001876.4(CPT1A):c.1788C>T (p.Leu596=)	1374	CPT1A	Likely benign	-1	RCV001403023;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68530182	68530182	G	A	68530182	-
NM_001876.4(CPT1A):c.1782C>T (p.Thr594=)	1374	CPT1A	Likely benign	-1	RCV002156600;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68530188	68530188	G	A	68530188	-
NM_001876.4(CPT1A):c.1770G>A (p.Glu590=)	1374	CPT1A	Conflicting interpretations of pathogenicity	rs61731905	RCV000505913\|RCV000693494;	N	MedGen:CN517202\|MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68530200	68530200	C	T	NC_000011.9:g.68530200C>T	ClinGen:CA6152202	C1829703 Carnitine palmitoyl transferase 1 deficiency;
NM_001876.4(CPT1A):c.1767C>T (p.Tyr589=)	1374	CPT1A	Likely benign	-1	RCV001448299;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68530203	68530203	G	A	68530203	-
NM_001876.4(CPT1A):c.1762_1766dup (p.Tyr589Ter)	1374	CPT1A	Pathogenic	-1	RCV002000046;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68530203	68530204	G	GTATGT	68530203	-
NM_001876.4(CPT1A):c.1745T>G (p.Met582Arg)	1374	CPT1A	Uncertain significance	-1	RCV001883984;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68530225	68530225	A	C	68530225	-
NM_001876.4(CPT1A):c.1743C>T (p.Asp581=)	1374	CPT1A	Likely benign	-1	RCV002153706;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68530227	68530227	G	A	68530227	-
NM_001876.4(CPT1A):c.1741-4C>G	1374	CPT1A	Likely benign	-1	RCV001393754;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68530233	68530233	G	C	68530233	-
NM_001876.4(CPT1A):c.1741-4C>T	1374	CPT1A	Likely benign	-1	RCV002171876;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68530233	68530233	G	A	68530233	-
NM_001876.4(CPT1A):c.1741-8T>C	1374	CPT1A	Likely benign	-1	RCV001442441;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68530237	68530237	A	G	68530237	-
NM_001876.4(CPT1A):c.1741-15C>T	1374	CPT1A	Likely benign	-1	RCV002141910;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68530244	68530244	G	A	68530244	-
NC_000011.9:g.(?_68540723)_(68549437_?)dup	1374	CPT1A	Likely pathogenic	-1	RCV002035984;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68540723	68549437	na	na	-1	-
NM_001876.4(CPT1A):c.1740+10G>A	1374	CPT1A	Likely benign	-1	RCV002167217;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68540723	68540723	C	T	68540723	-
NM_001876.4(CPT1A):c.1737C>A (p.Tyr579Ter)	1374	CPT1A	not provided	rs80356785	RCV000055862;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68540736	68540736	G	T	11:g.68540736G>T	ClinGen:CA344977	C0342789 255120 Carnitine palmitoyltransferase I deficiency;
NM_001876.4(CPT1A):c.1731G>A (p.Ala577=)	1374	CPT1A	Likely benign	-1	RCV001482769;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68540742	68540742	C	T	68540742	-
NM_001876.4(CPT1A):c.1728G>A (p.Leu576=)	1374	CPT1A	Likely benign	-1	RCV001395169;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68540745	68540745	C	T	68540745	-
NM_001876.4(CPT1A):c.1728G>T (p.Leu576=)	1374	CPT1A	Likely benign	-1	RCV002111175;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68540745	68540745	C	A	68540745	-
NM_001876.4(CPT1A):c.1720C>T (p.Leu574Phe)	1374	CPT1A	Uncertain significance	rs1484699196	RCV001053393;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68540753	68540753	G	A	11:g.68540753G>A	-
NM_001876.4(CPT1A):c.1719C>T (p.Ala573=)	1374	CPT1A	Likely benign	-1	RCV001413158;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68540754	68540754	G	A	68540754	-
NM_001876.4(CPT1A):c.1711C>T (p.Gln571Ter)	1374	CPT1A	Likely pathogenic	rs1057516586	RCV000409010;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68540762	68540762	G	A	11:g.68540762G>A	ClinGen:CA16041535	C0342789 255120 Carnitine palmitoyltransferase I deficiency;
NM_001876.4(CPT1A):c.1709_1710del (p.Val570fs)	1374	CPT1A	Pathogenic	-1	RCV001389218;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68540763	68540764	GCA	G	68540762	-
NM_001876.4(CPT1A):c.1704C>T (p.Ala568=)	1374	CPT1A	Uncertain significance	rs1855045353	RCV001278053;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68540769	68540769	G	A	11:g.68540769G>A	-
NM_001876.4(CPT1A):c.1702G>T (p.Ala568Ser)	1374	CPT1A	Uncertain significance	rs1046804	RCV001042882;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68540771	68540771	C	A	11:g.68540771C>A	-
NM_001876.4(CPT1A):c.1694G>T (p.Ser565Ile)	1374	CPT1A	Uncertain significance	rs200826577	RCV001210350;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68540779	68540779	C	A	11:g.68540779C>A	-
NM_001876.4(CPT1A):c.1692G>A (p.Thr564=)	1374	CPT1A	Likely benign	-1	RCV001434676;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68540781	68540781	C	T	68540781	-
NM_001876.4(CPT1A):c.1686T>C (p.Cys562=)	1374	CPT1A	Likely benign	-1	RCV001461091;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68540787	68540787	A	G	68540787	-
NM_001876.4(CPT1A):c.1677C>T (p.Ile559=)	1374	CPT1A	Likely benign	-1	RCV002220533;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68540796	68540796	G	A	68540796	-
NM_001876.4(CPT1A):c.1675A>G (p.Ile559Val)	1374	CPT1A	Uncertain significance	-1	RCV001361587;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68540798	68540798	T	C	68540798	-
NM_001876.4(CPT1A):c.1662T>C (p.Phe554=)	1374	CPT1A	Likely benign	-1	RCV001422235;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68540811	68540811	A	G	68540811	-
NM_001876.4(CPT1A):c.1658C>T (p.Ala553Val)	1374	CPT1A	Uncertain significance	-1	RCV002004801;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68540815	68540815	G	A	68540815	-
NM_001876.4(CPT1A):c.1656A>G (p.Val552=)	1374	CPT1A	Likely benign	rs1594326863	RCV000979380\|RCV001433743;	N	MedGen:CN517202\|MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68540817	68540817	T	C	11:g.68540817T>C	-
NM_001876.4(CPT1A):c.1654G>A (p.Val552Ile)	1374	CPT1A	Uncertain significance	rs764692013	RCV000800466;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68540819	68540819	C	T	11:g.68540819C>T	-
NM_001876.4(CPT1A):c.1653C>T (p.Phe551=)	1374	CPT1A	Likely benign	rs1314725177	RCV001278054;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68540820	68540820	G	A	11:g.68540820G>A	-
NM_001876.4(CPT1A):c.1650A>G (p.Pro550=)	1374	CPT1A	Likely benign	-1	RCV001410204;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68540823	68540823	T	C	68540823	-
NM_001876.4(CPT1A):c.1644C>T (p.Ser548=)	1374	CPT1A	Likely benign	rs775058970	RCV000922989;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68540829	68540829	G	A	11:g.68540829G>A	-
NM_001876.4(CPT1A):c.1630G>A (p.Val544Met)	1374	CPT1A	Uncertain significance	-1	RCV001991761;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68540843	68540843	C	T	68540843	-
NM_001876.4(CPT1A):c.1620G>C (p.Leu540=)	1374	CPT1A	Likely benign	-1	RCV002079330;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68540853	68540853	C	G	68540853	-
NM_001876.4(CPT1A):c.1614T>C (p.Asn538=)	1374	CPT1A	Likely benign	-1	RCV002194904;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68540859	68540859	A	G	68540859	-
NM_001876.4(CPT1A):c.1608C>T (p.Thr536=)	1374	CPT1A	Likely benign	-1	RCV001503193;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68540865	68540865	G	A	68540865	-
NM_001876.4(CPT1A):c.1600del (p.Ser533_Leu534insTer)	1374	CPT1A	not provided	rs80356801	RCV000055861;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68540873	68540873	AG	A	11:g.68540873_68540873del	ClinGen:CA344976	C0342789 255120 Carnitine palmitoyltransferase I deficiency;
NM_001876.4(CPT1A):c.1597T>C (p.Ser533Pro)	1374	CPT1A	Uncertain significance	rs1855050882	RCV001278055;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68540876	68540876	A	G	11:g.68540876A>G	-
NM_001876.4(CPT1A):c.1596C>G (p.Thr532=)	1374	CPT1A	Likely benign	-1	RCV002163225;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68540877	68540877	G	C	68540877	-
NM_001876.4(CPT1A):c.1581A>G (p.Gln527=)	1374	CPT1A	Likely benign	-1	RCV002082846;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68540892	68540892	T	C	68540892	-
NM_001876.4(CPT1A):c.1576-2A>G	1374	CPT1A	Likely pathogenic	rs1555227607	RCV000674220;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68540899	68540899	T	C	11:g.68540899T>C	-	C0342789 255120 Carnitine palmitoyltransferase I deficiency;
NM_001876.4(CPT1A):c.1576-11T>G	1374	CPT1A	Likely benign	-1	RCV002093484;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68540908	68540908	A	C	68540908	-
NM_001876.4(CPT1A):c.1575+517_1575+521dup	1374	CPT1A	Uncertain significance	rs1169875761	RCV001278056;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68542249	68542250	C	CAAAAA	11:g.68542249_68542250insAAAAA	-
NM_001876.4(CPT1A):c.1575+533_1575+534del	1374	CPT1A	Pathogenic	rs1169875761	RCV000009631;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68542250	68542251	CAA	C	NC_000011.9:g.68542266_68542267del	ClinGen:CA340852,OMIM:600528.0007	C0342789 255120 Carnitine palmitoyltransferase I deficiency;
NM_001876.4(CPT1A):c.1575+10G>A	1374	CPT1A	Likely benign	-1	RCV001400013;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68542774	68542774	C	T	68542774	-
NM_001876.4(CPT1A):c.1575+9G>A	1374	CPT1A	Likely benign	-1	RCV001476480;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68542775	68542775	C	T	68542775	-
NM_001876.4(CPT1A):c.1575+8C>T	1374	CPT1A	Benign/Likely benign	rs372364901	RCV000608847\|RCV000896489;	N	MedGen:CN169374\|MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68542776	68542776	G	A	11:g.68542776G>A	ClinGen:CA6152270	CN169374 not specified;
NM_001876.4(CPT1A):c.1575+1G>A	1374	CPT1A	Likely pathogenic	rs1282293820	RCV000666394;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68542783	68542783	C	T	11:g.68542783C>T	-	C0342789 255120 Carnitine palmitoyltransferase I deficiency;
NM_001876.4(CPT1A):c.1573dup (p.Glu525fs)	1374	CPT1A	Pathogenic	-1	RCV001970195;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68542785	68542786	T	TC	68542785	-
NM_001876.4(CPT1A):c.1569G>A (p.Pro523=)	1374	CPT1A	Likely benign	-1	RCV001473340;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68542790	68542790	C	T	68542790	-
NM_001876.4(CPT1A):c.1569G>C (p.Pro523=)	1374	CPT1A	Likely benign	-1	RCV002109140;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68542790	68542790	C	G	68542790	-
NM_001876.4(CPT1A):c.1567C>G (p.Pro523Ala)	1374	CPT1A	Uncertain significance	-1	RCV001909784;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68542792	68542792	G	C	68542792	-
NM_001876.4(CPT1A):c.1563C>T (p.Asp521=)	1374	CPT1A	Likely benign	rs757551678	RCV000943036\|RCV001463582;	N	MedGen:CN517202\|MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68542796	68542796	G	A	11:g.68542796G>A	-
NM_001876.4(CPT1A):c.1557G>A (p.Gln519=)	1374	CPT1A	Likely benign	rs149983153	RCV000540126;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68542802	68542802	C	T	NC_000011.9:g.68542802C>T	ClinGen:CA6152279	C1829703 Carnitine palmitoyl transferase 1 deficiency;
NM_001876.4(CPT1A):c.1539G>A (p.Pro513=)	1374	CPT1A	Likely benign	rs371923903	RCV000873331;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68542820	68542820	C	T	11:g.68542820C>T	-
NM_001876.4(CPT1A):c.1530G>A (p.Pro510=)	1374	CPT1A	Likely benign	-1	RCV001476903;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68542829	68542829	C	T	68542829	-
NM_001876.4(CPT1A):c.1529C>T (p.Pro510Leu)	1374	CPT1A	Benign	rs61731906	RCV000419074\|RCV000525124;	N	MedGen:CN169374\|MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68542830	68542830	G	A	11:g.68542830G>A	ClinGen:CA6152285	C1829703 Carnitine palmitoyl transferase 1 deficiency;
NM_001876.4(CPT1A):c.1528C>T (p.Pro510Ser)	1374	CPT1A	Uncertain significance	rs1279443212	RCV001197737;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68542831	68542831	G	A	11:g.68542831G>A	-
NM_001876.4(CPT1A):c.1518C>T (p.Gly506=)	1374	CPT1A	Uncertain significance	rs573112017	RCV001301992;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68542841	68542841	G	A	68542841	-
NM_001876.4(CPT1A):c.1509C>T (p.His503=)	1374	CPT1A	Likely benign	-1	RCV002087101;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68542850	68542850	G	A	68542850	-
NM_001876.4(CPT1A):c.1500G>A (p.Glu500=)	1374	CPT1A	Likely benign	rs760474415	RCV001278057;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68542859	68542859	C	T	11:g.68542859C>T	-
NM_001876.4(CPT1A):c.1496C>T (p.Ala499Val)	1374	CPT1A	Uncertain significance	rs753866589	RCV000795564\|RCV000994678;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156\|MedGen:CN517202	11	68542863	68542863	G	A	11:g.68542863G>A	-
NM_001876.4(CPT1A):c.1494T>A (p.Tyr498Ter)	1374	CPT1A	not provided	rs80356795	RCV000055859;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68542865	68542865	A	T	11:g.68542865A>T	ClinGen:CA344972	C0342789 255120 Carnitine palmitoyltransferase I deficiency;
NM_001876.4(CPT1A):c.1493A>G (p.Tyr498Cys)	1374	CPT1A	Conflicting interpretations of pathogenicity	rs80356791	RCV000009633;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68542866	68542866	T	C	11:g.68542866T>C	ClinGen:CA340856,UniProtKB:P50416#VAR_020557,OMIM:600528.0005	C0342789 255120 Carnitine palmitoyltransferase I deficiency;
NM_001876.4(CPT1A):c.1488G>A (p.Leu496=)	1374	CPT1A	Likely benign	-1	RCV002137792;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68542871	68542871	C	T	68542871	-
NM_001876.4(CPT1A):c.1465A>G (p.Met489Val)	1374	CPT1A	Uncertain significance	-1	RCV002006013;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68542894	68542894	T	C	68542894	-
NM_001876.4(CPT1A):c.1461C>T (p.Tyr487=)	1374	CPT1A	Likely benign	rs757568196	RCV000424215\|RCV000917962;	N	MedGen:CN169374\|MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68542898	68542898	G	A	11:g.68542898G>A	ClinGen:CA6152293	CN169374 not specified;
NM_001876.4(CPT1A):c.1459T>G (p.Tyr487Asp)	1374	CPT1A	Uncertain significance	-1	RCV002023655;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68542900	68542900	A	C	68542900	-
NM_001876.4(CPT1A):c.1459-1G>A	1374	CPT1A	Likely pathogenic	rs1057517046	RCV001037328;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68542901	68542901	C	T	11:g.68542901C>T	ClinGen:CA16041536	C0342789 255120 Carnitine palmitoyltransferase I deficiency;
NM_001876.4(CPT1A):c.1459-6dup	1374	CPT1A	Likely benign	rs767372374	RCV000927849\|RCV001273374;	N	MedGen:CN517202\|MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68542905	68542906	C	CA	11:g.68542905_68542906insA	-
NC_000011.9:g.(?_68548098)_(68552488_?)dup	1374	CPT1A	Likely pathogenic	-1	RCV002006721;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68548098	68552488	na	na	-1	-
NC_000011.9:g.(?_68548098)_(68548223_?)del	1374	CPT1A	Pathogenic	-1	RCV001970042;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68548098	68548223	na	na	-1	-
NM_001876.4(CPT1A):c.1458+8T>G	1374	CPT1A	Likely benign	-1	RCV001437061;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68548100	68548100	A	C	68548100	-
NM_001876.4(CPT1A):c.1458+1G>A	1374	CPT1A	Likely pathogenic	rs1555228470	RCV000669248;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68548107	68548107	C	T	11:g.68548107C>T	-	C0342789 255120 Carnitine palmitoyltransferase I deficiency;
NM_001876.4(CPT1A):c.1451T>C (p.Leu484Pro)	1374	CPT1A	not provided	rs80356793	RCV000055858;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68548115	68548115	A	G	11:g.68548115A>G	ClinGen:CA344970,UniProtKB:P50416#VAR_020556	C0342789 255120 Carnitine palmitoyltransferase I deficiency;
NM_001876.4(CPT1A):c.1449C>A (p.His483Gln)	1374	CPT1A	Uncertain significance	rs1165511243	RCV001052557\|RCV001759787;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156\|MedGen:CN517202	11	68548117	68548117	G	T	11:g.68548117G>T	-
NM_001876.4(CPT1A):c.1440C>T (p.Ile480=)	1374	CPT1A	Likely benign	-1	RCV001502077;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68548126	68548126	G	A	68548126	-
NM_001876.4(CPT1A):c.1437G>A (p.Pro479=)	1374	CPT1A	Likely benign	rs554525176	RCV000639506;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68548129	68548129	C	T	11:g.68548129C>T	ClinGen:CA6152308	C1829703 Carnitine palmitoyl transferase 1 deficiency;
NM_001876.4(CPT1A):c.1437G>C (p.Pro479=)	1374	CPT1A	Likely benign	-1	RCV002093321;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68548129	68548129	C	G	68548129	-
NM_001876.4(CPT1A):c.1436C>T (p.Pro479Leu)	1374	CPT1A	Pathogenic	rs80356779	RCV000079911\|RCV000551382\|RCV000714476\|RCV000714477;	N	MedGen:CN517202\|MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156\|\|	11	68548130	68548130	G	A	11:g.68548130G>A	ClinGen:CA221853,UniProtKB:P50416#VAR_020555,OMIM:600528.0012	C1829703 Carnitine palmitoyl transferase 1 deficiency;
NM_001876.4(CPT1A):c.1434G>A (p.Ala478=)	1374	CPT1A	Likely benign	-1	RCV001405211;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68548132	68548132	C	T	68548132	-
NM_001876.4(CPT1A):c.1433C>T (p.Ala478Val)	1374	CPT1A	Uncertain significance	-1	RCV002009258;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68548133	68548133	G	A	68548133	-
NM_001876.4(CPT1A):c.1425G>A (p.Trp475Ter)	1374	CPT1A	not provided	rs80356794	RCV000055856;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68548141	68548141	C	T	11:g.68548141C>T	ClinGen:CA344967	C0342789 255120 Carnitine palmitoyltransferase I deficiency;
NM_001876.4(CPT1A):c.1410C>T (p.Asn470=)	1374	CPT1A	Likely benign	-1	RCV001403771;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68548156	68548156	G	A	68548156	-
NM_001876.4(CPT1A):c.1405C>T (p.Leu469Phe)	1374	CPT1A	Uncertain significance	rs1315026195	RCV001239268;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68548161	68548161	G	A	11:g.68548161G>A	-
NM_001876.4(CPT1A):c.1395G>T (p.Gly465=)	1374	CPT1A	not provided	-1	RCV002052303;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68548171	68548171	C	A	68548171	-
NM_001876.4(CPT1A):c.1395G>A (p.Gly465=)	1374	CPT1A	Likely benign	-1	RCV002155800;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68548171	68548171	C	T	68548171	-
NM_001876.4(CPT1A):c.1395G>C (p.Gly465=)	1374	CPT1A	Likely benign	-1	RCV002210626;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68548171	68548171	C	G	68548171	-
NM_001876.4(CPT1A):c.1393G>T (p.Gly465Trp)	1374	CPT1A	Pathogenic	rs80356784	RCV000055855;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68548173	68548173	C	A	11:g.68548173C>A	ClinGen:CA344965,UniProtKB:P50416#VAR_046769	C0342789 255120 Carnitine palmitoyltransferase I deficiency;
NM_001876.4(CPT1A):c.1393G>A (p.Gly465Arg)	1374	CPT1A	Uncertain significance	rs80356784	RCV000666810;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68548173	68548173	C	T	11:g.68548173C>T	-	C0342789 255120 Carnitine palmitoyltransferase I deficiency;
NM_001876.4(CPT1A):c.1392C>T (p.Asn464=)	1374	CPT1A	Likely benign	rs138700687	RCV000937847\|RCV001697880;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156\|MedGen:CN517202	11	68548174	68548174	G	A	11:g.68548174G>A	ClinGen:CA6152315	CN169374 not specified;
NM_001876.4(CPT1A):c.1386del (p.Phe462fs)	1374	CPT1A	Likely pathogenic	rs753776604	RCV000410594;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68548180	68548180	TG	T	11:g.68548180_68548180del	ClinGen:CA6152316	C0342789 255120 Carnitine palmitoyltransferase I deficiency;
NM_001876.4(CPT1A):c.1386C>A (p.Phe462Leu)	1374	CPT1A	Uncertain significance	-1	RCV002043758;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68548180	68548180	G	T	68548180	-
NM_001876.4(CPT1A):c.1383C>T (p.Val461=)	1374	CPT1A	Likely benign	-1	RCV001437547;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68548183	68548183	G	A	68548183	-
NM_001876.4(CPT1A):c.1374G>A (p.Thr458=)	1374	CPT1A	Likely benign	-1	RCV001410973;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68548192	68548192	C	T	68548192	-
NM_001876.4(CPT1A):c.1368G>A (p.Ser456=)	1374	CPT1A	Likely benign	-1	RCV001460206;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68548198	68548198	C	T	68548198	-
NM_001876.4(CPT1A):c.1368G>C (p.Ser456=)	1374	CPT1A	Likely benign	-1	RCV002079748;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68548198	68548198	C	G	68548198	-
NM_001876.4(CPT1A):c.1367C>T (p.Ser456Leu)	1374	CPT1A	Uncertain significance	rs1478167106	RCV001203077;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68548199	68548199	G	A	11:g.68548199G>A	-	C0342789 255120 Carnitine palmitoyltransferase I deficiency;
NM_001876.4(CPT1A):c.1367C>A (p.Ser456Ter)	1374	CPT1A	Pathogenic	-1	RCV001882012;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68548199	68548199	G	T	68548199	-
NM_001876.4(CPT1A):c.1364A>C (p.Lys455Thr)	1374	CPT1A	Likely pathogenic	rs189174414	RCV000169575;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68548202	68548202	T	G	NC_000011.9:g.68548202T>G	ClinGen:CA274426	C0342789 255120 Carnitine palmitoyltransferase I deficiency;
NM_001876.4(CPT1A):c.1361A>G (p.Asp454Gly)	1374	CPT1A	Pathogenic	rs80356778	RCV000009628;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68548205	68548205	T	C	11:g.68548205T>C	ClinGen:CA340848,UniProtKB:P50416#VAR_020554,OMIM:600528.0001	C0342789 255120 Carnitine palmitoyltransferase I deficiency;
NM_001876.4(CPT1A):c.1353-4G>A	1374	CPT1A	Likely benign	rs577271875	RCV000426803\|RCV002059836;	N	MedGen:CN169374\|MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68548217	68548217	C	T	11:g.68548217C>T	ClinGen:CA6152324	CN169374 not specified;
NM_001876.4(CPT1A):c.1353-4G>T	1374	CPT1A	Likely benign	-1	RCV002201030;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68548217	68548217	C	A	68548217	-
NM_001876.4(CPT1A):c.1353-5C>T	1374	CPT1A	Likely benign	-1	RCV001480109;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68548218	68548218	G	A	68548218	-
NM_001876.4(CPT1A):c.1353-8T>C	1374	CPT1A	Likely benign	-1	RCV002137332;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68548221	68548221	A	G	68548221	-
NM_001876.4(CPT1A):c.1353-15G>A	1374	CPT1A	Likely benign	-1	RCV002006846;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68548228	68548228	C	T	68548228	-
NM_001876.4(CPT1A):c.1353-17_1353-16del	1374	CPT1A	Uncertain significance	-1	RCV002050065;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68548229	68548230	CAT	C	68548228	-
NM_001876.4(CPT1A):c.1353-47G>T	1374	CPT1A	Benign	-1	RCV001533355\|RCV001647370;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156\|MedGen:CN517202	11	68548260	68548260	C	A	68548260	-
NM_001876.4(CPT1A):c.1352+6G>A	1374	CPT1A	Uncertain significance	rs541440067	RCV001067804;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68549233	68549233	C	T	11:g.68549233C>T	-
NM_001876.4(CPT1A):c.1348_1352+4del	1374	CPT1A	Likely pathogenic	rs1555228640	RCV000665000;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68549235	68549243	GGTACCTGTC	G	11:g.68549235_68549243del	-	C0342789 255120 Carnitine palmitoyltransferase I deficiency;
NM_001876.4(CPT1A):c.1350C>T (p.Asp450=)	1374	CPT1A	Likely benign	-1	RCV002150979;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68549241	68549241	G	A	68549241	-
NM_001876.4(CPT1A):c.1348G>A (p.Asp450Asn)	1374	CPT1A	Uncertain significance	-1	RCV001945386;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68549243	68549243	C	T	68549243	-
NM_001876.4(CPT1A):c.1347C>T (p.Tyr449=)	1374	CPT1A	Likely benign	-1	RCV001490618;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68549244	68549244	G	A	68549244	-
NM_001876.4(CPT1A):c.1340G>A (p.Arg447Gln)	1374	CPT1A	Uncertain significance	rs757593086	RCV001278058;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68549251	68549251	C	T	11:g.68549251C>T	-
NM_001876.4(CPT1A):c.1339C>T (p.Arg447Ter)	1374	CPT1A	Pathogenic	rs397515543	RCV000055854;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68549252	68549252	G	A	11:g.68549252G>A	ClinGen:CA344962	C0342789 255120 Carnitine palmitoyltransferase I deficiency;
NM_001876.4(CPT1A):c.1335C>T (p.His445=)	1374	CPT1A	Likely benign	-1	RCV001442694;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68549256	68549256	G	A	68549256	-
NM_001876.4(CPT1A):c.1328dup (p.Leu444fs)	1374	CPT1A	Pathogenic	-1	RCV001941664;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68549262	68549263	T	TA	68549262	-
NM_001876.4(CPT1A):c.1329A>G (p.Leu443=)	1374	CPT1A	Likely benign	-1	RCV002119063;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68549262	68549262	T	C	68549262	-
NM_001876.4(CPT1A):c.1325C>A (p.Ser442Tyr)	1374	CPT1A	Uncertain significance	-1	RCV002051107;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68549266	68549266	G	T	68549266	-
NM_001876.4(CPT1A):c.1323A>G (p.Lys441=)	1374	CPT1A	Likely benign	-1	RCV001428078;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68549268	68549268	T	C	68549268	-
NM_001876.4(CPT1A):c.1320C>T (p.Ala440=)	1374	CPT1A	Likely benign	-1	RCV001491024;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68549271	68549271	G	A	68549271	-
NM_001876.4(CPT1A):c.1317C>T (p.Tyr439=)	1374	CPT1A	Likely benign	rs140332936	RCV001278059;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68549274	68549274	G	A	11:g.68549274G>A	-
NM_001876.4(CPT1A):c.1302G>A (p.Thr434=)	1374	CPT1A	Likely benign	rs1424284180	RCV000841296\|RCV001413559;	N	MedGen:CN517202\|MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68549289	68549289	C	T	11:g.68549289C>T	-
NM_001876.4(CPT1A):c.1298del (p.Asp433fs)	1374	CPT1A	Likely pathogenic	rs1057516304	RCV000410094;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68549293	68549293	AT	A	NC_000011.9:g.68549293del	ClinGen:CA16041537	C0342789 255120 Carnitine palmitoyltransferase I deficiency;
NM_001876.4(CPT1A):c.1296G>A (p.Pro432=)	1374	CPT1A	Likely benign	rs756320661	RCV000944900;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68549295	68549295	C	T	11:g.68549295C>T	-
NM_001876.4(CPT1A):c.1296G>C (p.Pro432=)	1374	CPT1A	Likely benign	-1	RCV001443619;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68549295	68549295	C	G	68549295	-
NM_001876.4(CPT1A):c.1284A>G (p.Arg428=)	1374	CPT1A	Likely benign	-1	RCV001472231;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68549307	68549307	T	C	68549307	-
NM_001876.4(CPT1A):c.1271AAG[1] (p.Glu425del)	1374	CPT1A	Uncertain significance	rs747376723	RCV000664961;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68549315	68549317	CCTT	C	11:g.68549315_68549317del	-	C0342789 255120 Carnitine palmitoyltransferase I deficiency;
NM_001876.4(CPT1A):c.1269T>C (p.Thr423=)	1374	CPT1A	Likely benign	-1	RCV002209264;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68549322	68549322	A	G	68549322	-
NM_001876.4(CPT1A):c.1268C>T (p.Thr423Ile)	1374	CPT1A	Uncertain significance	rs1198520664	RCV001278060;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68549323	68549323	G	A	11:g.68549323G>A	-
NM_001876.4(CPT1A):c.1257G>A (p.Thr419=)	1374	CPT1A	Likely benign	rs764443409	RCV000600810\|RCV000873669;	N	MedGen:CN169374\|MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68549334	68549334	C	T	11:g.68549334C>T	ClinGen:CA6152365	CN169374 not specified;
NM_001876.4(CPT1A):c.1251= (p.Phe417=)	1374	CPT1A	Benign	rs2228502	RCV000124600\|RCV000536914;	N	MedGen:CN169374\|MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68549340	68549340	A	A	NC_000011.9:g.68549340%3D	ClinGen:CA290510	C1829703 Carnitine palmitoyl transferase 1 deficiency;
NM_001876.4(CPT1A):c.1251T>C (p.Phe417=)	1374	CPT1A	Benign	rs2228502	RCV000153103\|RCV001520685;	N	MedGen:CN169374\|MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68549340	68549340	A	G	11:g.68549340A>G	ClinGen:CA179929	CN169374 not specified;
NM_001876.4(CPT1A):c.1245G>A (p.Ala415=)	1374	CPT1A	Likely benign	rs750166396	RCV000929887;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68549346	68549346	C	T	11:g.68549346C>T	-
NM_001876.4(CPT1A):c.1244C>T (p.Ala415Val)	1374	CPT1A	Uncertain significance	-1	RCV001563777;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68549347	68549347	G	A	68549347	-
NM_001876.4(CPT1A):c.1241C>T (p.Ala414Val)	1374	CPT1A	Likely pathogenic	rs80356790	RCV000009632;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68549350	68549350	G	A	11:g.68549350G>A	ClinGen:CA340854,UniProtKB:P50416#VAR_020553,OMIM:600528.0004	C0342789 255120 Carnitine palmitoyltransferase I deficiency;
NM_001876.4(CPT1A):c.1239A>G (p.Lys413=)	1374	CPT1A	Likely benign	-1	RCV002153762;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68549352	68549352	T	C	68549352	-
NM_001876.4(CPT1A):c.1234G>A (p.Glu412Lys)	1374	CPT1A	Likely pathogenic	-1	RCV002210939;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68549357	68549357	C	T	68549357	-
NM_001876.4(CPT1A):c.1227T>C (p.Asp409=)	1374	CPT1A	Likely benign	-1	RCV002083422;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68549364	68549364	A	G	68549364	-
NM_001876.4(CPT1A):c.1216C>T (p.Gln406Ter)	1374	CPT1A	Pathogenic	rs1594334937	RCV000799501;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68549375	68549375	G	A	11:g.68549375G>A	-
NM_001876.4(CPT1A):c.1215G>A (p.Lys405=)	1374	CPT1A	Likely benign	-1	RCV001441490;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68549376	68549376	C	T	68549376	-
NM_001876.4(CPT1A):c.1199G>C (p.Gly400Ala)	1374	CPT1A	Uncertain significance	rs889632692	RCV000797134;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68549392	68549392	C	G	11:g.68549392C>G	-
NM_001876.4(CPT1A):c.1192T>C (p.Tyr398His)	1374	CPT1A	Uncertain significance	-1	RCV001895586;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68549399	68549399	A	G	68549399	-
NM_001876.4(CPT1A):c.1183C>T (p.Arg395Cys)	1374	CPT1A	Uncertain significance	-1	RCV001364399;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68549408	68549408	G	A	68549408	-
NM_001876.4(CPT1A):c.1163+8G>A	1374	CPT1A	Likely benign	-1	RCV002207143;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68552275	68552275	C	T	68552275	-
NM_001876.4(CPT1A):c.1163+5G>A	1374	CPT1A	Likely benign	rs140999795	RCV000526735;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68552278	68552278	C	T	NC_000011.9:g.68552278C>T	ClinGen:CA6152400	C1829703 Carnitine palmitoyl transferase 1 deficiency;
NM_001876.4(CPT1A):c.1163+2T>C	1374	CPT1A	Likely pathogenic	rs1555229059	RCV000664629;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68552281	68552281	A	G	11:g.68552281A>G	-	C0342789 255120 Carnitine palmitoyltransferase I deficiency;
NM_001876.4(CPT1A):c.1163+1G>A	1374	CPT1A	Pathogenic	rs148059333	RCV000548200;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68552282	68552282	C	T	11:g.68552282C>T	ClinGen:CA6152404	C1829703 Carnitine palmitoyl transferase 1 deficiency;
NM_001876.4(CPT1A):c.1152C>T (p.Thr384=)	1374	CPT1A	Likely benign	-1	RCV001495959;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68552294	68552294	G	A	68552294	-
NM_001876.4(CPT1A):c.1131G>A (p.Glu377=)	1374	CPT1A	Likely benign	-1	RCV002157781;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68552315	68552315	C	T	68552315	-
NM_001876.4(CPT1A):c.1113G>A (p.Ser371=)	1374	CPT1A	Uncertain significance	-1	RCV001888160;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68552333	68552333	C	T	68552333	-
NM_001876.4(CPT1A):c.1112C>T (p.Ser371Leu)	1374	CPT1A	Uncertain significance	rs376430455	RCV001197738;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68552334	68552334	G	A	11:g.68552334G>A	-
NM_001876.4(CPT1A):c.1110C>T (p.Thr370=)	1374	CPT1A	Likely benign	-1	RCV001392700;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68552336	68552336	G	A	68552336	-
NM_001876.4(CPT1A):c.1104C>T (p.Asp368=)	1374	CPT1A	Likely benign	-1	RCV001437417;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68552342	68552342	G	A	68552342	-
NM_001876.4(CPT1A):c.1099C>T (p.Leu367=)	1374	CPT1A	Likely benign	-1	RCV002182581;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68552347	68552347	G	A	68552347	-
NM_001876.4(CPT1A):c.1098C>A (p.Ile366=)	1374	CPT1A	Likely benign	-1	RCV001484440;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68552348	68552348	G	T	68552348	-
NM_001876.4(CPT1A):c.1092G>A (p.Gln364=)	1374	CPT1A	Conflicting interpretations of pathogenicity	rs199640034	RCV000351929\|RCV001089338;	N	MedGen:CN517202\|MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68552354	68552354	C	T	11:g.68552354C>T	ClinGen:CA6152420	CN169374 not specified;
NM_001876.4(CPT1A):c.1083G>A (p.Gln361=)	1374	CPT1A	Likely benign	-1	RCV001423880;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68552363	68552363	C	T	68552363	-
NM_001876.4(CPT1A):c.1080G>A (p.Glu360=)	1374	CPT1A	Likely benign	-1	RCV002163450;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68552366	68552366	C	T	68552366	-
NM_001876.4(CPT1A):c.1079A>G (p.Glu360Gly)	1374	CPT1A	Pathogenic	rs80356787	RCV000009629;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68552367	68552367	T	C	11:g.68552367T>C	ClinGen:CA340850,UniProtKB:P50416#VAR_020551,OMIM:600528.0002	C0342789 255120 Carnitine palmitoyltransferase I deficiency;
NM_001876.4(CPT1A):c.1077G>A (p.Met359Ile)	1374	CPT1A	Uncertain significance	rs1432015707	RCV000755990\|RCV001274164;	N	MedGen:CN517202\|MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68552369	68552369	C	T	NC_000011.9:g.68552369C>T	-
NM_001876.4(CPT1A):c.1069C>T (p.Arg357Trp)	1374	CPT1A	Likely pathogenic	rs80356777	RCV000055853;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68552377	68552377	G	A	11:g.68552377G>A	ClinGen:CA344960,UniProtKB:P50416#VAR_020550	C0342789 255120 Carnitine palmitoyltransferase I deficiency;
NM_001876.4(CPT1A):c.1065G>A (p.Lys355=)	1374	CPT1A	Likely benign	-1	RCV002150229;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68552381	68552381	C	T	68552381	-
NM_001876.4(CPT1A):c.1056G>A (p.Arg352=)	1374	CPT1A	Likely benign	-1	RCV002196978;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68552390	68552390	C	T	68552390	-
NM_001876.4(CPT1A):c.1055G>A (p.Arg352Gln)	1374	CPT1A	Benign	rs374383052	RCV000441757\|RCV000755989\|RCV001080563;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68552391	68552391	C	T	11:g.68552391C>T	ClinGen:CA6152426	CN169374 not specified;
NM_001876.4(CPT1A):c.1054C>T (p.Arg352Trp)	1374	CPT1A	Uncertain significance	-1	RCV001563779;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68552392	68552392	G	A	68552392	-
NM_001876.4(CPT1A):c.1053G>A (p.Gly351=)	1374	CPT1A	Likely benign	rs1594337533	RCV000944515;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68552393	68552393	C	T	11:g.68552393C>T	-
NM_001876.4(CPT1A):c.1047T>C (p.His349=)	1374	CPT1A	Likely benign	-1	RCV001421759;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68552399	68552399	A	G	68552399	-
NM_001876.4(CPT1A):c.1041C>T (p.Leu347=)	1374	CPT1A	Likely benign	-1	RCV002175945;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68552405	68552405	G	A	68552405	-
NM_001876.4(CPT1A):c.1027T>G (p.Phe343Val)	1374	CPT1A	Uncertain significance	rs80356783	RCV000055852;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68552419	68552419	A	C	11:g.68552419A>C	ClinGen:CA344958,UniProtKB:P50416#VAR_046768	C0342789 255120 Carnitine palmitoyltransferase I deficiency;
NM_001876.4(CPT1A):c.1018G>A (p.Gly340Arg)	1374	CPT1A	Uncertain significance	-1	RCV001563778;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68552428	68552428	C	T	68552428	-
NM_001876.4(CPT1A):c.1015C>T (p.Arg339Ter)	1374	CPT1A	Pathogenic	-1	RCV001382563;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68552431	68552431	G	A	68552431	-
NM_001876.4(CPT1A):c.1003G>A (p.Val335Ile)	1374	CPT1A	Uncertain significance	rs112620511	RCV001363169;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68552443	68552443	C	T	11:g.68552443C>T	-
NM_001876.4(CPT1A):c.1002C>T (p.Ile334=)	1374	CPT1A	Likely benign	-1	RCV001427176;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68552444	68552444	G	A	68552444	-
NM_001876.4(CPT1A):c.990C>T (p.Asp330=)	1374	CPT1A	Likely benign	-1	RCV001419063;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68552456	68552456	G	A	68552456	-
NM_001876.4(CPT1A):c.981C>T (p.His327=)	1374	CPT1A	Likely benign	-1	RCV002194071;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68552465	68552465	G	A	68552465	-
NM_001876.4(CPT1A):c.968-3C>G	1374	CPT1A	Uncertain significance	rs1594337667	RCV000790370;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68552481	68552481	G	C	11:g.68552481G>C	-
NM_001876.4(CPT1A):c.968-4T>C	1374	CPT1A	Likely benign	-1	RCV001483595;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68552482	68552482	A	G	68552482	-
NM_001876.4(CPT1A):c.968-5C>T	1374	CPT1A	Likely benign	-1	RCV001394803;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68552483	68552483	G	A	68552483	-
NM_001876.4(CPT1A):c.968-8C>T	1374	CPT1A	Benign	rs2305507	RCV000079921\|RCV001521378;	N	MedGen:CN169374\|MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68552486	68552486	G	A	11:g.68552486G>A	ClinGen:CA285507	CN169374 not specified;
NM_001876.4(CPT1A):c.968-11G>A	1374	CPT1A	Uncertain significance	-1	RCV001896141;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68552489	68552489	C	T	68552489	-
NC_000011.9:g.(?_68560773)_(68564411_?)dup	1374	CPT1A	Likely pathogenic	-1	RCV001379585;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68560773	68564411	na	na	-1	-
NC_000011.9:g.(?_68560773)_(68562389_?)del	1374	CPT1A	Pathogenic	-1	RCV001382020;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68560773	68562389	na	na	-1	-
NM_001876.4(CPT1A):c.967+10G>A	1374	CPT1A	Likely benign	-1	RCV002212358;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68560773	68560773	C	T	68560773	-
NM_001876.4(CPT1A):c.967+10G>C	1374	CPT1A	Likely benign	-1	RCV002157429;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68560773	68560773	C	G	68560773	-
NM_001876.4(CPT1A):c.967+9A>G	1374	CPT1A	Likely benign	-1	RCV001447279;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68560774	68560774	T	C	68560774	-
NM_001876.4(CPT1A):c.967+3G>A	1374	CPT1A	Benign	rs75677837	RCV000079920\|RCV000553044;	N	MedGen:CN169374\|MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68560780	68560780	C	T	11:g.68560780C>T	ClinGen:CA285506	C1829703 Carnitine palmitoyl transferase 1 deficiency;
NM_001876.4(CPT1A):c.967+2T>C	1374	CPT1A	Likely pathogenic	rs1224226554	RCV000672741;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68560781	68560781	A	G	11:g.68560781A>G	-	C0342789 255120 Carnitine palmitoyltransferase I deficiency;
NM_001876.4(CPT1A):c.967+1G>A	1374	CPT1A	Likely pathogenic	rs112498048	RCV000412145;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68560782	68560782	C	T	NC_000011.9:g.68560782C>T	ClinGen:CA16041538	C0342789 255120 Carnitine palmitoyltransferase I deficiency;
NM_001876.4(CPT1A):c.963G>A (p.Glu321=)	1374	CPT1A	Benign	rs2229737	RCV000079919\|RCV001275356;	N	MedGen:CN169374\|MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68560787	68560787	C	T	11:g.68560787C>T	ClinGen:CA285503	CN169374 not specified;
NM_001876.4(CPT1A):c.961G>A (p.Glu321Lys)	1374	CPT1A	Conflicting interpretations of pathogenicity	rs114030714	RCV000951726\|RCV001558613;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156\|MedGen:CN517202	11	68560789	68560789	C	T	11:g.68560789C>T	-
NM_001876.4(CPT1A):c.957A>G (p.Gly319=)	1374	CPT1A	Likely benign	-1	RCV002180557;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68560793	68560793	T	C	68560793	-
NM_001876.4(CPT1A):c.948del (p.Ile317fs)	1374	CPT1A	Pathogenic	rs80356800	RCV000009637;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68560802	68560802	TC	T	11:g.68560802_68560802del	ClinGen:CA340862,OMIM:600528.0010	C0342789 255120 Carnitine palmitoyltransferase I deficiency;
NM_001876.4(CPT1A):c.946C>G (p.Arg316Gly)	1374	CPT1A	Uncertain significance	rs80356796	RCV000055872\|RCV000298507;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156\|MedGen:CN517202	11	68560804	68560804	G	C	11:g.68560804G>C	ClinGen:CA344991,UniProtKB:P50416#VAR_046767	C0342789 255120 Carnitine palmitoyltransferase I deficiency;
NM_001876.4(CPT1A):c.945C>G (p.Ser315=)	1374	CPT1A	Likely benign	-1	RCV002075363;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68560805	68560805	G	C	68560805	-
NM_001876.4(CPT1A):c.941C>T (p.Thr314Ile)	1374	CPT1A	not provided	rs80356776	RCV000055870;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68560809	68560809	G	A	11:g.68560809G>A	ClinGen:CA344989,UniProtKB:P50416#VAR_020549	C0342789 255120 Carnitine palmitoyltransferase I deficiency;
NM_001876.4(CPT1A):c.937A>G (p.Asn313Asp)	1374	CPT1A	Uncertain significance	-1	RCV002033430;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68560813	68560813	T	C	68560813	-
NM_001876.4(CPT1A):c.930G>C (p.Arg310=)	1374	CPT1A	Likely benign	rs147373480	RCV000872832;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68560820	68560820	C	G	11:g.68560820C>G	-
NM_001876.4(CPT1A):c.929G>A (p.Arg310Gln)	1374	CPT1A	Uncertain significance	rs536671702	RCV001343156;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68560821	68560821	C	T	68560821	-
NM_001876.4(CPT1A):c.924G>A (p.Trp308Ter)	1374	CPT1A	Pathogenic	-1	RCV001901121;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68560826	68560826	C	T	68560826	-
NM_001876.4(CPT1A):c.919C>T (p.Gln307Ter)	1374	CPT1A	Likely pathogenic	rs1057516396	RCV000411254;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68560831	68560831	G	A	11:g.68560831G>A	ClinGen:CA16041539	C0342789 255120 Carnitine palmitoyltransferase I deficiency;
NM_001876.4(CPT1A):c.916G>A (p.Ala306Thr)	1374	CPT1A	Uncertain significance	rs775746905	RCV001278063;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68560834	68560834	C	T	11:g.68560834C>T	-
NM_001876.4(CPT1A):c.915C>T (p.Ser305=)	1374	CPT1A	Likely benign	-1	RCV001414995;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68560835	68560835	G	A	68560835	-
NM_001876.4(CPT1A):c.912C>G (p.Cys304Trp)	1374	CPT1A	not provided	rs80356789	RCV000055869;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68560838	68560838	G	C	11:g.68560838G>C	ClinGen:CA344987,UniProtKB:P50416#VAR_020548	C0342789 255120 Carnitine palmitoyltransferase I deficiency;
NM_001876.4(CPT1A):c.912C>T (p.Cys304=)	1374	CPT1A	Likely benign	-1	RCV002172480;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68560838	68560838	G	A	68560838	-
NM_001876.4(CPT1A):c.900G>T (p.Thr300=)	1374	CPT1A	Likely benign	-1	RCV001429248;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68560850	68560850	C	A	68560850	-
NM_001876.4(CPT1A):c.900G>A (p.Thr300=)	1374	CPT1A	Likely benign	-1	RCV001478795;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68560850	68560850	C	T	68560850	-
NM_001876.4(CPT1A):c.893G>T (p.Gly298Val)	1374	CPT1A	Uncertain significance	rs1310052561	RCV001278064;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68560857	68560857	C	A	11:g.68560857C>A	-
NM_001876.4(CPT1A):c.879+10C>T	1374	CPT1A	Likely benign	-1	RCV001440165;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68562262	68562262	G	A	68562262	-
NM_001876.4(CPT1A):c.873C>T (p.Ile291=)	1374	CPT1A	Likely benign	-1	RCV002219122;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68562278	68562278	G	A	68562278	-
NM_001876.4(CPT1A):c.863G>A (p.Arg288Gln)	1374	CPT1A	Benign	rs140958507	RCV000185825\|RCV000538266;	N	MedGen:CN169374\|MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68562288	68562288	C	T	11:g.68562288C>T	ClinGen:CA312413	C1829703 Carnitine palmitoyl transferase 1 deficiency;
NM_001876.4(CPT1A):c.853A>C (p.Lys285Gln)	1374	CPT1A	Conflicting interpretations of pathogenicity	rs77477448	RCV000965846\|RCV001593152;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156\|MedGen:CN517202	11	68562298	68562298	T	G	11:g.68562298T>G	-
NM_001876.4(CPT1A):c.851G>A (p.Arg284His)	1374	CPT1A	Uncertain significance	rs144866081	RCV000697594\|RCV000732851;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156\|MedGen:CN517202	11	68562300	68562300	C	T	NC_000011.9:g.68562300C>T	-	C1829703 Carnitine palmitoyl transferase 1 deficiency;
NM_001876.4(CPT1A):c.847A>C (p.Arg283=)	1374	CPT1A	Likely benign	rs1173914550	RCV000946225\|RCV001441693;	N	MedGen:CN517202\|MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68562304	68562304	T	G	11:g.68562304T>G	-
NM_001876.4(CPT1A):c.823G>A (p.Ala275Thr)	1374	CPT1A	Benign/Likely benign	rs2229738	RCV000055868\|RCV000180224;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156\|MedGen:CN169374	11	68562328	68562328	C	T	11:g.68562328C>T	ClinGen:CA303058,UniProtKB:P50416#VAR_020547	C0342789 255120 Carnitine palmitoyltransferase I deficiency;
NM_001876.4(CPT1A):c.822C>T (p.Asn274=)	1374	CPT1A	Likely benign	rs774440104	RCV000905380\|RCV001459091;	N	MedGen:CN517202\|MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68562329	68562329	G	A	11:g.68562329G>A	-
NM_001876.4(CPT1A):c.816C>T (p.Ala272=)	1374	CPT1A	Likely benign	-1	RCV001450693;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68562335	68562335	G	A	68562335	-
NM_001876.4(CPT1A):c.795T>C (p.Thr265=)	1374	CPT1A	Likely benign	-1	RCV002212122;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68562356	68562356	A	G	68562356	-
NM_001876.4(CPT1A):c.789T>C (p.Leu263=)	1374	CPT1A	Likely benign	-1	RCV002162699;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68562362	68562362	A	G	68562362	-
NM_001876.4(CPT1A):c.775C>T (p.Leu259=)	1374	CPT1A	Likely benign	-1	RCV002145347;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68562376	68562376	G	A	68562376	-
NM_001876.4(CPT1A):c.772-1G>A	1374	CPT1A	Likely pathogenic	rs1555230326	RCV000671449;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68562380	68562380	C	T	11:g.68562380C>T	-	C0342789 255120 Carnitine palmitoyltransferase I deficiency;
NM_001876.4(CPT1A):c.772-2A>G	1374	CPT1A	Likely pathogenic	rs1057517245	RCV000409488;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68562381	68562381	T	C	NC_000011.9:g.68562381T>C	ClinGen:CA16041540	C0342789 255120 Carnitine palmitoyltransferase I deficiency;
NM_001876.4(CPT1A):c.772-8C>T	1374	CPT1A	Likely benign	-1	RCV002091849;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68562387	68562387	G	A	68562387	-
NM_001876.4(CPT1A):c.772-9G>A	1374	CPT1A	Likely benign	-1	RCV001479690;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68562388	68562388	C	T	68562388	-
NM_001876.4(CPT1A):c.772-9G>T	1374	CPT1A	Likely benign	-1	RCV002151943;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68562388	68562388	C	A	68562388	-
NM_001876.4(CPT1A):c.772-10C>T	1374	CPT1A	Likely benign	-1	RCV001491933;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68562389	68562389	G	A	68562389	-
NM_001876.4(CPT1A):c.771+18G>T	1374	CPT1A	Likely benign	-1	RCV002190615;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68564306	68564306	C	A	68564306	-
NM_001876.4(CPT1A):c.771+16C>T	1374	CPT1A	Likely benign	-1	RCV002123400;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68564308	68564308	G	A	68564308	-
NM_001876.4(CPT1A):c.771+1G>C	1374	CPT1A	Likely pathogenic	rs1555230494	RCV000666015;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68564323	68564323	C	G	11:g.68564323C>G	-	C0342789 255120 Carnitine palmitoyltransferase I deficiency;
NM_001876.4(CPT1A):c.756C>T (p.Ser252=)	1374	CPT1A	Uncertain significance	rs1855767126	RCV001052145;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68564339	68564339	G	A	11:g.68564339G>A	-
NM_001876.4(CPT1A):c.753C>T (p.Asn251=)	1374	CPT1A	Likely benign	rs765615450	RCV000922627;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68564342	68564342	G	A	11:g.68564342G>A	-
NM_001876.4(CPT1A):c.744C>T (p.Leu248=)	1374	CPT1A	Likely benign	-1	RCV002207825;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68564351	68564351	G	A	68564351	-
NM_001876.4(CPT1A):c.742del (p.Leu248fs)	1374	CPT1A	Pathogenic	-1	RCV001924623;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68564353	68564353	AG	A	68564352	-
NM_001876.4(CPT1A):c.741G>A (p.Pro247=)	1374	CPT1A	Likely benign	-1	RCV001456642;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68564354	68564354	C	T	68564354	-
NM_001876.4(CPT1A):c.733C>T (p.Arg245Ter)	1374	CPT1A	Pathogenic	rs767241290	RCV001248371;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68564362	68564362	G	A	11:g.68564362G>A	-
NM_001876.4(CPT1A):c.727C>T (p.Arg243Ter)	1374	CPT1A	Likely pathogenic	rs779893091	RCV000410747;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68564368	68564368	G	A	NC_000011.9:g.68564368G>A	ClinGen:CA16041541	C0342789 255120 Carnitine palmitoyltransferase I deficiency;
NM_001876.4(CPT1A):c.727C>A (p.Arg243=)	1374	CPT1A	Likely benign	-1	RCV002124111;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68564368	68564368	G	T	68564368	-
NM_001876.4(CPT1A):c.717C>T (p.Tyr239=)	1374	CPT1A	Likely benign	-1	RCV001394386;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68564378	68564378	G	A	68564378	-
NM_001876.4(CPT1A):c.699C>T (p.Ser233=)	1374	CPT1A	Likely benign	-1	RCV001429752;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68564396	68564396	G	A	68564396	-
NM_001876.4(CPT1A):c.694-2A>G	1374	CPT1A	Likely pathogenic	rs1555230518	RCV000670948;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68564403	68564403	T	C	11:g.68564403T>C	-	C0342789 255120 Carnitine palmitoyltransferase I deficiency;
NM_001876.4(CPT1A):c.694-5A>G	1374	CPT1A	Likely benign	rs533087846	RCV000900369\|RCV002068641;	N	MedGen:CN517202\|MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68564406	68564406	T	C	11:g.68564406T>C	-
NM_001876.4(CPT1A):c.694-10C>T	1374	CPT1A	Likely benign	rs201198921	RCV000936744\|RCV001721388;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156\|MedGen:CN517202	11	68564411	68564411	G	A	11:g.68564411G>A	ClinGen:CA6152562	CN169374 not specified;
NM_001876.4(CPT1A):c.693+34dup	1374	CPT1A	Benign	-1	RCV001661307;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68566647	68566648	G	GA	68566647	-
NM_001876.4(CPT1A):c.693+37T>C	1374	CPT1A	Benign	-1	RCV001659119\|RCV001659118;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156\|MedGen:CN517202	11	68566649	68566649	A	G	68566649	-
NM_001876.4(CPT1A):c.693+36T>G	1374	CPT1A	Benign	-1	RCV001661308;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68566650	68566650	A	C	68566650	-
NM_001876.4(CPT1A):c.693+35T>A	1374	CPT1A	Benign	-1	RCV001661309;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68566651	68566651	A	T	68566651	-
NM_001876.4(CPT1A):c.693+7C>T	1374	CPT1A	Likely benign	rs370181471	RCV000876354;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68566679	68566679	G	A	11:g.68566679G>A	-
NM_001876.4(CPT1A):c.693+1G>C	1374	CPT1A	Likely pathogenic	rs1055176086	RCV000409157;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68566685	68566685	C	G	11:g.68566685C>G	ClinGen:CA16041542	C0342789 255120 Carnitine palmitoyltransferase I deficiency;
NM_001876.4(CPT1A):c.693+1G>T	1374	CPT1A	Likely pathogenic	rs1055176086	RCV000664818;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68566685	68566685	C	A	11:g.68566685C>A	-	C0342789 255120 Carnitine palmitoyltransferase I deficiency;
NM_001876.4(CPT1A):c.693+1G>A	1374	CPT1A	Likely pathogenic	rs1055176086	RCV001217441;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68566685	68566685	C	T	11:g.68566685C>T	-
NM_001876.4(CPT1A):c.675C>T (p.Ser225=)	1374	CPT1A	Likely benign	-1	RCV001403895;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68566704	68566704	G	A	68566704	-
NM_001876.4(CPT1A):c.669A>G (p.Leu223=)	1374	CPT1A	Likely benign	rs373563983	RCV000532948;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68566710	68566710	T	C	NC_000011.9:g.68566710T>C	ClinGen:CA6152599	C1829703 Carnitine palmitoyl transferase 1 deficiency;
NM_001876.4(CPT1A):c.668T>G (p.Leu223Ter)	1374	CPT1A	Pathogenic	-1	RCV001890053;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68566711	68566711	A	C	68566711	-
NM_001876.4(CPT1A):c.647G>A (p.Arg216Lys)	1374	CPT1A	Uncertain significance	rs955789237	RCV001278065;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68566732	68566732	C	T	11:g.68566732C>T	-
NM_001876.4(CPT1A):c.642A>G (p.Gly214=)	1374	CPT1A	Likely benign	rs377534215	RCV000943577;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68566737	68566737	T	C	11:g.68566737T>C	-
NM_001876.4(CPT1A):c.634G>A (p.Gly212Ser)	1374	CPT1A	Uncertain significance	-1	RCV001371711;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68566745	68566745	C	T	68566745	-
NM_001876.4(CPT1A):c.633C>T (p.Val211=)	1374	CPT1A	Likely benign	rs775908039	RCV000942838;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68566746	68566746	G	A	11:g.68566746G>A	-
NM_001876.4(CPT1A):c.620A>G (p.Gln207Arg)	1374	CPT1A	Uncertain significance	rs1855839019	RCV001278066;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68566759	68566759	T	C	11:g.68566759T>C	-
NM_001876.4(CPT1A):c.603G>A (p.Arg201=)	1374	CPT1A	Likely benign	-1	RCV001479778;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68566776	68566776	C	T	68566776	-
NM_001876.4(CPT1A):c.601C>T (p.Arg201Trp)	1374	CPT1A	Uncertain significance	rs373344573	RCV001351022;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68566778	68566778	G	A	68566778	-
NM_001876.4(CPT1A):c.597C>T (p.Phe199=)	1374	CPT1A	Likely benign	-1	RCV002174811;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68566782	68566782	G	A	68566782	-
NM_001876.4(CPT1A):c.589G>T (p.Glu197Ter)	1374	CPT1A	Pathogenic	-1	RCV001955535;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68566790	68566790	C	A	68566790	-
NM_001876.4(CPT1A):c.588A>G (p.Glu196=)	1374	CPT1A	Likely benign	-1	RCV001446314;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68566791	68566791	T	C	68566791	-
NM_001876.4(CPT1A):c.567G>A (p.Ser189=)	1374	CPT1A	Likely benign	-1	RCV001452978;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68566812	68566812	C	T	68566812	-
NM_001876.4(CPT1A):c.557A>G (p.Tyr186Cys)	1374	CPT1A	Uncertain significance	rs759188040	RCV000224865\|RCV001833236;	N	MedGen:CN517202\|MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68566822	68566822	T	C	11:g.68566822T>C	ClinGen:CA6152620	CN517202 not provided;
NM_001876.4(CPT1A):c.556-4C>T	1374	CPT1A	Likely benign	-1	RCV001500819;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68566827	68566827	G	A	68566827	-
NM_001876.4(CPT1A):c.556-12del	1374	CPT1A	Benign	rs113037606	RCV000079916\|RCV002055145;	N	MedGen:CN169374\|MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68566835	68566835	TG	T	11:g.68566835_68566835del	ClinGen:CA285500	CN169374 not specified;
NM_001876.4(CPT1A):c.556-16_556-15insT	1374	CPT1A	Benign	-1	RCV002165055;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68566838	68566839	G	GA	68566838	-
NM_001876.4(CPT1A):c.556-16C>T	1374	CPT1A	Benign	rs3019603	RCV000079917\|RCV001520686;	N	MedGen:CN169374\|MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68566839	68566839	G	A	11:g.68566839G>A	ClinGen:CA285501	CN169374 not specified;
NM_001876.4(CPT1A):c.556-19T>G	1374	CPT1A	Benign	rs117610994	RCV000079918\|RCV001516155;	N	MedGen:CN169374\|MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68566842	68566842	A	C	11:g.68566842A>C	ClinGen:CA285502	CN169374 not specified;
NM_001876.4(CPT1A):c.555+9G>A	1374	CPT1A	Likely benign	-1	RCV002080881;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68571459	68571459	C	T	68571459	-
NM_001876.4(CPT1A):c.539_540del (p.Lys180fs)	1374	CPT1A	Pathogenic	rs1319341024	RCV001203078;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68571483	68571484	CTT	C	11:g.68571483_68571484del	-
NM_001876.4(CPT1A):c.535G>A (p.Val179Ile)	1374	CPT1A	Uncertain significance	rs542856213	RCV001246631;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68571488	68571488	C	T	11:g.68571488C>T	-
NM_001876.4(CPT1A):c.534T>C (p.Ala178=)	1374	CPT1A	Likely benign	-1	RCV002153666;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68571489	68571489	A	G	68571489	-
NM_001876.4(CPT1A):c.530del (p.Pro177fs)	1374	CPT1A	Pathogenic	-1	RCV001951062;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68571493	68571493	CG	C	68571492	-
NM_001876.4(CPT1A):c.528C>A (p.Val176=)	1374	CPT1A	Likely benign	-1	RCV001454772;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68571495	68571495	G	T	68571495	-
NM_001876.4(CPT1A):c.525G>A (p.Pro175=)	1374	CPT1A	Likely benign	rs371805329	RCV000876633;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68571498	68571498	C	T	11:g.68571498C>T	-
NM_001876.4(CPT1A):c.524C>T (p.Pro175Leu)	1374	CPT1A	Uncertain significance	-1	RCV001878982;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68571499	68571499	G	A	68571499	-
NM_001876.4(CPT1A):c.519C>A (p.Arg173=)	1374	CPT1A	Likely benign	-1	RCV002175380;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68571504	68571504	G	T	68571504	-
NM_001876.4(CPT1A):c.518G>A (p.Arg173His)	1374	CPT1A	Benign	rs199589844	RCV000431057\|RCV000873678;	N	MedGen:CN169374\|MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68571505	68571505	C	T	11:g.68571505C>T	ClinGen:CA6152639	CN169374 not specified;
NM_001876.4(CPT1A):c.517C>T (p.Arg173Cys)	1374	CPT1A	Uncertain significance	rs774388890	RCV000554631;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68571506	68571506	G	A	NC_000011.9:g.68571506G>A	ClinGen:CA6152641	C1829703 Carnitine palmitoyl transferase 1 deficiency;
NM_001876.4(CPT1A):c.510G>A (p.Ser170=)	1374	CPT1A	Likely benign	-1	RCV001500221;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68571513	68571513	C	T	68571513	-
NM_001876.4(CPT1A):c.507A>G (p.Thr169=)	1374	CPT1A	Likely benign	-1	RCV001404735;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68571516	68571516	T	C	68571516	-
NM_001876.4(CPT1A):c.507A>C (p.Thr169=)	1374	CPT1A	Likely benign	-1	RCV001453950;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68571516	68571516	T	G	68571516	-
NM_001876.4(CPT1A):c.504G>A (p.Gln168=)	1374	CPT1A	Likely benign	-1	RCV001494518;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68571519	68571519	C	T	68571519	-
NM_001876.4(CPT1A):c.495C>T (p.Tyr165=)	1374	CPT1A	Conflicting interpretations of pathogenicity	rs139789100	RCV000347532\|RCV001078636;	N	MedGen:CN517202\|MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68571528	68571528	G	A	11:g.68571528G>A	ClinGen:CA6152646	C1829703 Carnitine palmitoyl transferase 1 deficiency;
NM_001876.4(CPT1A):c.492G>A (p.Leu164=)	1374	CPT1A	Likely benign	rs200836324	RCV000873677;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68571531	68571531	C	T	11:g.68571531C>T	-
NM_001876.4(CPT1A):c.491T>C (p.Leu164Ser)	1374	CPT1A	Uncertain significance	-1	RCV001888688;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68571532	68571532	A	G	68571532	-
NM_001876.4(CPT1A):c.478C>T (p.Arg160Ter)	1374	CPT1A	Pathogenic	rs80356782	RCV000694487;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68571545	68571545	G	A	11:g.68571545G>A	ClinGen:CA344984	C1829703 Carnitine palmitoyl transferase 1 deficiency;
NM_001876.4(CPT1A):c.477C>A (p.Gly159=)	1374	CPT1A	Likely benign	-1	RCV002105235;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68571546	68571546	G	T	68571546	-
NM_001876.4(CPT1A):c.466A>G (p.Ile156Val)	1374	CPT1A	Uncertain significance	rs201398937	RCV000704593;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68571557	68571557	T	C	NC_000011.9:g.68571557T>C	-	C1829703 Carnitine palmitoyl transferase 1 deficiency;
NM_001876.4(CPT1A):c.465del (p.Ile156fs)	1374	CPT1A	Pathogenic	rs1855979917	RCV001047675;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68571558	68571558	TC	T	11:g.68571558_68571558del	-
NM_001876.4(CPT1A):c.454-6C>A	1374	CPT1A	Likely benign	-1	RCV001460708;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68571575	68571575	G	T	68571575	-
NM_001876.4(CPT1A):c.454-6C>T	1374	CPT1A	Likely benign	-1	RCV001480332;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68571575	68571575	G	A	68571575	-
NM_001876.4(CPT1A):c.454-7T>C	1374	CPT1A	Likely benign	-1	RCV001473782;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68571576	68571576	A	G	68571576	-
NM_001876.4(CPT1A):c.454-10C>T	1374	CPT1A	Likely benign	-1	RCV001396010;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68571579	68571579	G	A	68571579	-
NM_001876.4(CPT1A):c.454-10C>G	1374	CPT1A	Likely benign	-1	RCV001440952;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68571579	68571579	G	C	68571579	-
NM_001876.4(CPT1A):c.453+9G>A	1374	CPT1A	Benign/Likely benign	rs183694834	RCV000436427\|RCV000877069;	N	MedGen:CN169374\|MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68574926	68574926	C	T	11:g.68574926C>T	ClinGen:CA6152676	CN169374 not specified;
NM_001876.4(CPT1A):c.453+9G>C	1374	CPT1A	Likely benign	rs183694834	RCV000884572\|RCV001472382;	N	MedGen:CN517202\|MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68574926	68574926	C	G	11:g.68574926C>G	-
NM_001876.4(CPT1A):c.440C>T (p.Thr147Ile)	1374	CPT1A	Uncertain significance	-1	RCV001864933;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68574948	68574948	G	A	68574948	-
NM_001876.4(CPT1A):c.434G>A (p.Arg145His)	1374	CPT1A	Uncertain significance	rs373015421	RCV001239870;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68574954	68574954	C	T	11:g.68574954C>T	-
NM_001876.4(CPT1A):c.433C>T (p.Arg145Cys)	1374	CPT1A	Uncertain significance	-1	RCV001372609;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68574955	68574955	G	A	68574955	-
NM_001876.4(CPT1A):c.432T>C (p.Ser144=)	1374	CPT1A	Likely benign	rs751979703	RCV000940830\|RCV001274172;	N	MedGen:CN517202\|MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68574956	68574956	A	G	11:g.68574956A>G	-
NM_001876.4(CPT1A):c.421G>A (p.Gly141Ser)	1374	CPT1A	Uncertain significance	rs1309112630	RCV001196715;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68574967	68574967	C	T	11:g.68574967C>T	-
NM_001876.4(CPT1A):c.420C>T (p.His140=)	1374	CPT1A	Likely benign	-1	RCV001422835;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68574968	68574968	G	A	68574968	-
NM_001876.4(CPT1A):c.399C>T (p.His133=)	1374	CPT1A	Likely benign	-1	RCV001449397;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68574989	68574989	G	A	68574989	-
NM_001876.4(CPT1A):c.398A>C (p.His133Pro)	1374	CPT1A	Uncertain significance	-1	RCV001970709;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68574990	68574990	T	G	68574990	-
NM_001876.4(CPT1A):c.390C>T (p.Leu130=)	1374	CPT1A	Likely benign	-1	RCV001398047;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68574998	68574998	G	A	68574998	-
NM_001876.4(CPT1A):c.390C>A (p.Leu130=)	1374	CPT1A	Likely benign	-1	RCV002119186;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68574998	68574998	G	T	68574998	-
NM_001876.4(CPT1A):c.388C>T (p.Leu130Phe)	1374	CPT1A	Uncertain significance	-1	RCV002026971;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68575000	68575000	G	A	68575000	-
NM_001876.4(CPT1A):c.384G>A (p.Val128=)	1374	CPT1A	Likely benign	-1	RCV001499852;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68575004	68575004	C	T	68575004	-
NM_001876.4(CPT1A):c.367C>T (p.Arg123Cys)	1374	CPT1A	Uncertain significance	rs80356775	RCV000055866\|RCV000079915;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156\|MedGen:CN517202	11	68575021	68575021	G	A	11:g.68575021G>A	ClinGen:CA221862,UniProtKB:P50416#VAR_020546	C0342789 255120 Carnitine palmitoyltransferase I deficiency;
NM_001876.4(CPT1A):c.357C>T (p.Ile119=)	1374	CPT1A	Likely benign	rs138011726	RCV000603778\|RCV000945719;	N	MedGen:CN169374\|MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68575031	68575031	G	A	11:g.68575031G>A	ClinGen:CA6152700	CN169374 not specified;
NM_001876.4(CPT1A):c.340C>T (p.Leu114=)	1374	CPT1A	Likely benign	-1	RCV001410574;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68575048	68575048	G	A	68575048	-
NM_001876.4(CPT1A):c.339C>A (p.Gly113=)	1374	CPT1A	Likely benign	-1	RCV001431294;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68575049	68575049	G	T	68575049	-
NM_001876.4(CPT1A):c.337G>A (p.Gly113Ser)	1374	CPT1A	Uncertain significance	rs555444012	RCV001239402\|RCV001545991;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156\|MedGen:CN517202	11	68575051	68575051	C	T	11:g.68575051C>T	-
NM_001876.4(CPT1A):c.336C>T (p.Thr112=)	1374	CPT1A	Benign/Likely benign	rs61731902	RCV000905804;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68575052	68575052	G	A	11:g.68575052G>A	-
NM_001876.4(CPT1A):c.327G>A (p.Leu109=)	1374	CPT1A	Likely benign	-1	RCV001424973;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68575061	68575061	C	T	68575061	-
NM_001876.4(CPT1A):c.319G>A (p.Gly107Ser)	1374	CPT1A	Uncertain significance	rs773497434	RCV000697214;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68575069	68575069	C	T	NC_000011.9:g.68575069C>T	-	C1829703 Carnitine palmitoyl transferase 1 deficiency;
NM_001876.4(CPT1A):c.318C>T (p.Ser106=)	1374	CPT1A	Likely benign	-1	RCV001495392;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68575070	68575070	G	A	68575070	-
NM_001876.4(CPT1A):c.317G>A (p.Ser106Asn)	1374	CPT1A	Conflicting interpretations of pathogenicity	-1	RCV001563504\|RCV001563776;	N	MedGen:CN517202\|MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68575071	68575071	C	T	68575071	-
NM_001876.4(CPT1A):c.315C>T (p.Val105=)	1374	CPT1A	Likely benign	-1	RCV001501600;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68575073	68575073	G	A	68575073	-
NM_001876.4(CPT1A):c.312G>C (p.Val104=)	1374	CPT1A	Likely benign	-1	RCV001423239;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68575076	68575076	C	G	68575076	-
NM_001876.4(CPT1A):c.309C>T (p.Asn103=)	1374	CPT1A	Likely benign	rs200536266	RCV000909938;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68575079	68575079	G	A	11:g.68575079G>A	-
NM_001876.4(CPT1A):c.303G>A (p.Thr101=)	1374	CPT1A	Likely benign	rs553777167	RCV000942109;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68575085	68575085	C	T	11:g.68575085C>T	-
NM_001876.4(CPT1A):c.303G>C (p.Thr101=)	1374	CPT1A	Likely benign	-1	RCV002190495;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68575085	68575085	C	G	68575085	-
NM_001876.4(CPT1A):c.302C>T (p.Thr101Met)	1374	CPT1A	Benign/Likely benign	rs61731903	RCV000757135\|RCV001079186;	N	MedGen:CN517202\|MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68575086	68575086	G	A	NC_000011.9:g.68575086G>A	-
NM_001876.4(CPT1A):c.298C>T (p.Gln100Ter)	1374	CPT1A	Pathogenic/Likely pathogenic	rs80356774	RCV000009630\|RCV000790812;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156\|MedGen:CN517202	11	68575090	68575090	G	A	NC_000011.9:g.68575090G>A	ClinGen:CA221859,OMIM:600528.0003	C0342789 255120 Carnitine palmitoyltransferase I deficiency;
NM_001876.4(CPT1A):c.292T>A (p.Ser98Thr)	1374	CPT1A	Uncertain significance	rs201446439	RCV001341008;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68575096	68575096	A	T	68575096	-
NM_001876.4(CPT1A):c.282-1G>A	1374	CPT1A	Likely pathogenic	rs1057517188	RCV000412419;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68575107	68575107	C	T	NC_000011.9:g.68575107C>T	ClinGen:CA16041543	C0342789 255120 Carnitine palmitoyltransferase I deficiency;
NM_001876.4(CPT1A):c.282-10G>A	1374	CPT1A	Likely benign	-1	RCV001896394;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68575116	68575116	C	T	68575116	-
NM_001876.4(CPT1A):c.282-10G>C	1374	CPT1A	Likely benign	-1	RCV002152008;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68575116	68575116	C	G	68575116	-
NM_001876.4(CPT1A):c.281+1G>A	1374	CPT1A	Pathogenic/Likely pathogenic	rs191107774	RCV000177139\|RCV001854409;	N	MedGen:CN517202\|MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68579904	68579904	C	T	11:g.68579904C>T	ClinGen:CA221858	C0342789 255120 Carnitine palmitoyltransferase I deficiency;
NM_001876.4(CPT1A):c.279G>T (p.Thr93=)	1374	CPT1A	Likely benign	-1	RCV001457529;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68579907	68579907	C	A	68579907	-
NM_001876.4(CPT1A):c.277A>C (p.Thr93Pro)	1374	CPT1A	Uncertain significance	-1	RCV001920994;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68579909	68579909	T	G	68579909	-
NM_001876.4(CPT1A):c.266G>A (p.Arg89Gln)	1374	CPT1A	Uncertain significance	rs751235722	RCV001278068;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68579920	68579920	C	T	11:g.68579920C>T	-
NM_001876.4(CPT1A):c.265C>T (p.Arg89Trp)	1374	CPT1A	Uncertain significance	rs574346392	RCV001278069;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68579921	68579921	G	A	11:g.68579921G>A	-
NM_001876.4(CPT1A):c.263A>G (p.Asn88Ser)	1374	CPT1A	Uncertain significance	rs781040444	RCV001278070;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68579923	68579923	T	C	11:g.68579923T>C	-
NM_001876.4(CPT1A):c.261C>T (p.Ile87=)	1374	CPT1A	Likely benign	-1	RCV001478949;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68579925	68579925	G	A	68579925	-
NM_001876.4(CPT1A):c.247A>G (p.Ile83Val)	1374	CPT1A	Uncertain significance	rs748174436	RCV001278071;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68579939	68579939	T	C	11:g.68579939T>C	-
NM_001876.4(CPT1A):c.244G>A (p.Gly82Arg)	1374	CPT1A	Uncertain significance	-1	RCV001900850;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68579942	68579942	C	T	68579942	-
NM_001876.4(CPT1A):c.243A>G (p.Leu81=)	1374	CPT1A	Likely benign	-1	RCV002205212;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68579943	68579943	T	C	68579943	-
NM_001876.4(CPT1A):c.221_241del (p.Tyr74_Ser80del)	1374	CPT1A	Uncertain significance	rs1856241184	RCV001307893;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68579945	68579965	AACGAGGGGTCGATCTTGGCGT	A	68579944	-
NM_001876.4(CPT1A):c.240G>A (p.Ser80=)	1374	CPT1A	Benign	rs61731904	RCV000185821\|RCV000524920;	N	MedGen:CN169374\|MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68579946	68579946	C	T	NC_000011.9:g.68579946C>T	ClinGen:CA312404	C1829703 Carnitine palmitoyl transferase 1 deficiency;
NM_001876.4(CPT1A):c.231C>T (p.Ile77=)	1374	CPT1A	Likely benign	-1	RCV001423374;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68579955	68579955	G	A	68579955	-
NM_001876.4(CPT1A):c.228G>A (p.Lys76=)	1374	CPT1A	Likely benign	-1	RCV001400276;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68579958	68579958	C	T	68579958	-
NM_001876.4(CPT1A):c.222C>A (p.Tyr74Ter)	1374	CPT1A	Pathogenic/Likely pathogenic	rs398123654	RCV000790814\|RCV000793676;	N	MedGen:CN517202\|MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68579964	68579964	G	T	NC_000011.9:g.68579964G>T	ClinGen:CA221855	C0342789 255120 Carnitine palmitoyltransferase I deficiency;
NM_001876.4(CPT1A):c.222C>T (p.Tyr74=)	1374	CPT1A	Likely benign	-1	RCV001409988;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68579964	68579964	G	A	68579964	-
NM_001876.4(CPT1A):c.216G>A (p.Thr72=)	1374	CPT1A	Likely benign	-1	RCV001472116;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68579970	68579970	C	T	68579970	-
NM_001876.4(CPT1A):c.194TGG[2] (p.Val67del)	1374	CPT1A	Uncertain significance	rs1555232255	RCV000669476;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68579984	68579986	CCCA	C	11:g.68579984_68579986del	-	C0342789 255120 Carnitine palmitoyltransferase I deficiency;
NM_001876.4(CPT1A):c.192C>T (p.Ile64=)	1374	CPT1A	Likely benign	rs142691028	RCV000431380\|RCV000904647;	N	MedGen:CN169374\|MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68579994	68579994	G	A	11:g.68579994G>A	ClinGen:CA6152751	CN169374 not specified;
NM_001876.4(CPT1A):c.186G>A (p.Trp62Ter)	1374	CPT1A	Likely pathogenic	rs1057516434	RCV000409874;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68580000	68580000	C	T	NC_000011.9:g.68580000C>T	ClinGen:CA16041544	C0342789 255120 Carnitine palmitoyltransferase I deficiency;
NM_001876.4(CPT1A):c.183T>C (p.Ser61=)	1374	CPT1A	Likely benign	-1	RCV002154655;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68580003	68580003	A	G	68580003	-
NM_001876.4(CPT1A):c.176C>T (p.Pro59Leu)	1374	CPT1A	Uncertain significance	rs201762212	RCV001278072;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68580010	68580010	G	A	11:g.68580010G>A	-
NM_001876.4(CPT1A):c.171A>G (p.Ala57=)	1374	CPT1A	Likely benign	rs758539295	RCV000959062;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68580015	68580015	T	C	11:g.68580015T>C	-
NM_001876.4(CPT1A):c.160G>T (p.Val54Leu)	1374	CPT1A	Uncertain significance	rs147389938	RCV001244558\|RCV001550146;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156\|MedGen:CN517202	11	68580026	68580026	C	A	11:g.68580026C>A	-
NM_001876.4(CPT1A):c.160G>A (p.Val54Met)	1374	CPT1A	Uncertain significance	-1	RCV001943240;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68580026	68580026	C	T	68580026	-
NM_001876.4(CPT1A):c.159C>A (p.Gly53=)	1374	CPT1A	Likely benign	-1	RCV001445337;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68580027	68580027	G	T	68580027	-
NM_001876.4(CPT1A):c.147C>G (p.Gly49=)	1374	CPT1A	Likely benign	rs138011017	RCV000639507;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68580039	68580039	G	C	11:g.68580039G>C	ClinGen:CA6152762	C1829703 Carnitine palmitoyl transferase 1 deficiency;
NM_001876.4(CPT1A):c.145G>A (p.Gly49Ser)	1374	CPT1A	Uncertain significance	rs552007692	RCV000415847\|RCV001278073;	N	MedGen:CN517202\|MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68580041	68580041	C	T	11:g.68580041C>T	ClinGen:CA6152764	CN517202 not provided;
NM_001876.4(CPT1A):c.144C>T (p.Asn48=)	1374	CPT1A	Likely benign	rs182451427	RCV000610290\|RCV000876618;	N	MedGen:CN169374\|MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68580042	68580042	G	A	11:g.68580042G>A	ClinGen:CA6152765	CN169374 not specified;
NM_001876.4(CPT1A):c.142-16G>A	1374	CPT1A	Benign/Likely benign	rs201717907	RCV000433471\|RCV002063382;	N	MedGen:CN169374\|MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68580060	68580060	C	T	11:g.68580060C>T	ClinGen:CA6152769	CN169374 not specified;
NM_001876.4(CPT1A):c.142-17C>G	1374	CPT1A	Benign	-1	RCV002130546;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68580061	68580061	G	C	68580061	-
NM_001876.4(CPT1A):c.141+6C>G	1374	CPT1A	Uncertain significance	rs1856354034	RCV001206097;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68582796	68582796	G	C	11:g.68582796G>C	-
NM_001876.4(CPT1A):c.123G>A (p.Lys41=)	1374	CPT1A	Likely benign	-1	RCV001419638;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68582820	68582820	C	T	68582820	-
NM_001876.4(CPT1A):c.122del (p.Lys41fs)	1374	CPT1A	Pathogenic	rs1856354768	RCV001038812;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68582821	68582821	CT	C	11:g.68582821_68582821del	-
NM_001876.4(CPT1A):c.116G>C (p.Trp39Ser)	1374	CPT1A	Uncertain significance	rs766209790	RCV001339138;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68582827	68582827	C	G	68582827	-
NM_001876.4(CPT1A):c.105A>G (p.Gly35=)	1374	CPT1A	Likely benign	-1	RCV002192646;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68582838	68582838	T	C	68582838	-
NM_001876.4(CPT1A):c.101C>T (p.Ser34Phe)	1374	CPT1A	Uncertain significance	rs1856355607	RCV001313594;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68582842	68582842	G	A	68582842	-
NM_001876.4(CPT1A):c.100T>C (p.Ser34Pro)	1374	CPT1A	Conflicting interpretations of pathogenicity	rs398123653	RCV000079910\|RCV000693588\|RCV000723488;	N	MedGen:CN169374\|MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156\|MedGen:CN517202	11	68582843	68582843	A	G	11:g.68582843A>G	ClinGen:CA221850	C1829703 Carnitine palmitoyl transferase 1 deficiency;
NM_001876.4(CPT1A):c.96T>G (p.Tyr32Ter)	1374	CPT1A	not provided	rs80356786	RCV000055874;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68582847	68582847	A	C	11:g.68582847A>C	ClinGen:CA344993	C0342789 255120 Carnitine palmitoyltransferase I deficiency;
NM_001876.4(CPT1A):c.76G>T (p.Glu26Ter)	1374	CPT1A	Pathogenic	-1	RCV001384119;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68582867	68582867	C	A	68582867	-
NM_001876.4(CPT1A):c.75T>C (p.His25=)	1374	CPT1A	Likely benign	-1	RCV001484521;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68582868	68582868	A	G	68582868	-
NM_001876.4(CPT1A):c.61C>T (p.Leu21=)	1374	CPT1A	Likely benign	-1	RCV001394535;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68582882	68582882	G	A	68582882	-
NM_001876.4(CPT1A):c.56T>C (p.Ile19Thr)	1374	CPT1A	Uncertain significance	rs1306340710	RCV001246345;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68582887	68582887	A	G	11:g.68582887A>G	-
NM_001876.4(CPT1A):c.52G>A (p.Gly18Arg)	1374	CPT1A	Uncertain significance	rs767491846	RCV001351960;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68582891	68582891	C	T	68582891	-
NM_001876.4(CPT1A):c.51C>T (p.Asp17=)	1374	CPT1A	Likely benign	-1	RCV001479078;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68582892	68582892	G	A	68582892	-
NM_001876.4(CPT1A):c.48G>C (p.Pro16=)	1374	CPT1A	Likely benign	-1	RCV002072462;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68582895	68582895	C	G	68582895	-
NM_001876.4(CPT1A):c.47C>T (p.Pro16Leu)	1374	CPT1A	Uncertain significance	-1	RCV001884011;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68582896	68582896	G	A	68582896	-
NM_001876.4(CPT1A):c.36C>T (p.Phe12=)	1374	CPT1A	Likely benign	-1	RCV002146225;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68582907	68582907	G	A	68582907	-
NM_001876.4(CPT1A):c.18A>G (p.Gln6=)	1374	CPT1A	Likely benign	-1	RCV002184522;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68582925	68582925	T	C	68582925	-
NM_001876.4(CPT1A):c.-6C>G	1374	CPT1A	Uncertain significance	rs561418145	RCV001278074;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68582948	68582948	G	C	11:g.68582948G>C	-
NM_001876.4(CPT1A):c.-6C>A	1374	CPT1A	Uncertain significance	rs561418145	RCV001278075;	N	MONDO:MONDO:0009705,MedGen:C1829703,OMIM:255120, Orphanet:156	11	68582948	68582948	G	T	11:g.68582948G>T	-