Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	1376
Gene name	Carnitine palmitoyltransferase 2
Gene symbol	CPT2
Synonyms (NCBI Gene)	CPT1CPTASEIIAE4
Chromosome	1
Chromosome location	1p32.3
Summary	The protein encoded by this gene is a nuclear protein which is transported to the mitochondrial inner membrane. Together with carnitine palmitoyltransferase I, the encoded protein oxidizes long-chain fatty acids in the mitochondria. Defects in this gene a

Show/Hide all (88)

SNP ID	Visualize variation	Clinical significance	Consequence
rs1799821	G>A	Benign, risk-factor	Coding sequence variant, missense variant
rs2229291	T>G	Likely-benign, benign, risk-factor	Coding sequence variant, missense variant
rs17848485	A>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, intron variant, missense variant
rs28936375	C>A	Pathogenic	Coding sequence variant, missense variant
rs28936376	G>A	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs28936673	A>C	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs28936674	G>A,T	Likely-pathogenic, pathogenic	Stop gained, coding sequence variant, missense variant
rs74315293	C>T	Pathogenic	Missense variant, coding sequence variant
rs74315294	C>T	Conflicting-interpretations-of-pathogenicity, pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs74315295	T>A	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs74315296	C>T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs74315297	T>C	Uncertain-significance, benign, pathogenic, other	Missense variant, coding sequence variant
rs74315298	C>T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs74315299	G>T	Pathogenic	Stop gained, coding sequence variant
rs74315300	A>C,G	Pathogenic	Missense variant, coding sequence variant
rs121918528	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs144658100	T>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs147276580	A>C	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs147953465	T>C	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs148035648	A>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs148110518	G>A	Conflicting-interpretations-of-pathogenicity	Intron variant, synonymous variant, coding sequence variant
rs186044004	G>A	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs192779168	C>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs199673903	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs201065226	C>T	Pathogenic, likely-pathogenic	Coding sequence variant, stop gained
rs368311455	C>T	Pathogenic	Missense variant, coding sequence variant
rs397509431	GA>-	Pathogenic	Coding sequence variant, frameshift variant
rs515726173	GAACCCTGCAAAAAGTGACACTATC>T	Pathogenic, conflicting-interpretations-of-pathogenicity	Coding sequence variant, inframe indel
rs515726174	T>C	Pathogenic	Coding sequence variant, missense variant
rs515726175	A>G	Pathogenic	Coding sequence variant, missense variant
rs515726176	G>A,C	Pathogenic	Coding sequence variant, missense variant
rs515726177	G>A	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs515726178	C>-	Pathogenic	Coding sequence variant, stop gained
rs515726179	AGGCCTTAGAAGA>-	Pathogenic	Coding sequence variant, frameshift variant
rs727503887	C>T	Pathogenic-likely-pathogenic, likely-pathogenic, pathogenic	Stop gained, coding sequence variant
rs749895856	A>G,T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs754363068	->GC	Likely-pathogenic	Frameshift variant, coding sequence variant
rs754386565	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs755395180	A>T	Likely-pathogenic	Coding sequence variant, stop gained
rs755830520	T>A,C,G	Likely-pathogenic, likely-benign	Synonymous variant, coding sequence variant, stop gained
rs756931329	A>G,T	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant, missense variant
rs760255368	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs761438840	G>A,T	Likely-pathogenic	Stop gained, coding sequence variant, missense variant
rs762366252	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs764849762	G>A,C	Likely-pathogenic	Coding sequence variant, missense variant
rs767004984	CT>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs771214714	G>A,T	Likely-pathogenic	Missense variant, coding sequence variant
rs786204647	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs917744011	A>-	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant
rs1057517473	T>G	Likely-pathogenic	Splice donor variant, intron variant
rs1057517477	CTTT>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057517492	C>G,T	Likely-pathogenic	Stop gained, missense variant, coding sequence variant
rs1057517493	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057517494	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057517507	AGAA>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057517510	->GGGAGCCCCCAGTCGGCCC	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057517515	->A	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057517517	C>A	Likely-pathogenic	Stop gained, intron variant, coding sequence variant
rs1057517525	C>TA	Likely-pathogenic, pathogenic	Stop gained, coding sequence variant
rs1057517729	C>-	Likely-pathogenic, pathogenic	Coding sequence variant, frameshift variant
rs1131691330	->A	Pathogenic	Coding sequence variant, frameshift variant
rs1131691925	G>A,C,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs1187631754	AA>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1195259425	TG>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1229197873	C>-,CCC	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1238901632	AC>-	Pathogenic	Frameshift variant, coding sequence variant
rs1317793581	C>G	Likely-pathogenic	Coding sequence variant, stop gained
rs1469108369	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1553168850	CCTCAGCGCCGGCTCCGGGCCCGGCC>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553169106	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553169598	TTAT>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553169629	->GTAT	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553169666	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553169716	->T	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553169720	AATA>TTG	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553169726	AC>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553169771	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1553169787	AG>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553169813	->C	Likely-pathogenic	Intron variant, frameshift variant, coding sequence variant
rs1553169973	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553170005	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs1553170029	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553170033	->G	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1557713988	G>A	Pathogenic	Splice acceptor variant
rs1557718075	CACT>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1557719455	TT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1572385947	CA>-	Likely-pathogenic, pathogenic	Coding sequence variant, frameshift variant
rs1572385973	TGGTTGA>-	Likely-pathogenic	Coding sequence variant, intron variant, frameshift variant

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miRTarBase ID	miRNA	Experiments	Reference
MIRT025385	hsa-miR-34a-5p	Proteomics	21566225
MIRT043910	hsa-miR-378a-3p	CLASH	23622248
MIRT440883	ebv-miR-BART4-5p	HITS-CLIP	22473208
MIRT440883	ebv-miR-BART4-5p	HITS-CLIP	22473208
MIRT907797	hsa-miR-129-5p	CLIP-seq
MIRT907798	hsa-miR-3672	CLIP-seq
MIRT907799	hsa-miR-4438	CLIP-seq
MIRT907800	hsa-miR-4743	CLIP-seq
MIRT907801	hsa-miR-5095	CLIP-seq
MIRT907802	hsa-miR-720	CLIP-seq
MIRT1969097	hsa-miR-21	CLIP-seq
MIRT1969098	hsa-miR-2682	CLIP-seq
MIRT1969099	hsa-miR-3135	CLIP-seq
MIRT1969100	hsa-miR-3622a-5p	CLIP-seq
MIRT1969101	hsa-miR-3650	CLIP-seq
MIRT1969102	hsa-miR-4423-3p	CLIP-seq
MIRT1969103	hsa-miR-449c	CLIP-seq
MIRT1969104	hsa-miR-4695-3p	CLIP-seq
MIRT1969105	hsa-miR-4698	CLIP-seq
MIRT1969106	hsa-miR-4716-5p	CLIP-seq
MIRT1969107	hsa-miR-4731-5p	CLIP-seq
MIRT907800	hsa-miR-4743	CLIP-seq
MIRT1969108	hsa-miR-4781-3p	CLIP-seq
MIRT1969109	hsa-miR-590-5p	CLIP-seq
MIRT1969110	hsa-miR-940	CLIP-seq
MIRT2205091	hsa-miR-197	CLIP-seq
MIRT2205092	hsa-miR-3149	CLIP-seq
MIRT2205093	hsa-miR-3187-3p	CLIP-seq
MIRT1969100	hsa-miR-3622a-5p	CLIP-seq
MIRT1969101	hsa-miR-3650	CLIP-seq
MIRT2205094	hsa-miR-371-5p	CLIP-seq
MIRT2205095	hsa-miR-371b-5p	CLIP-seq
MIRT2205096	hsa-miR-411	CLIP-seq
MIRT1969102	hsa-miR-4423-3p	CLIP-seq
MIRT2205097	hsa-miR-4435	CLIP-seq
MIRT1969104	hsa-miR-4695-3p	CLIP-seq
MIRT2205098	hsa-miR-4701-5p	CLIP-seq
MIRT2205099	hsa-miR-4715-3p	CLIP-seq
MIRT1969106	hsa-miR-4716-5p	CLIP-seq
MIRT2205100	hsa-miR-4735-5p	CLIP-seq
MIRT907800	hsa-miR-4743	CLIP-seq
MIRT2205101	hsa-miR-4775	CLIP-seq
MIRT1969108	hsa-miR-4781-3p	CLIP-seq
MIRT2205102	hsa-miR-5096	CLIP-seq
MIRT2205103	hsa-miR-548s	CLIP-seq
MIRT2205104	hsa-miR-588	CLIP-seq
MIRT2205105	hsa-miR-590-3p	CLIP-seq
MIRT2205106	hsa-miR-624	CLIP-seq
MIRT2447563	hsa-miR-4720-3p	CLIP-seq
MIRT2447564	hsa-miR-4804-3p	CLIP-seq
MIRT2447565	hsa-miR-544	CLIP-seq
MIRT2508431	hsa-miR-1343	CLIP-seq
MIRT2205092	hsa-miR-3149	CLIP-seq
MIRT1969100	hsa-miR-3622a-5p	CLIP-seq
MIRT1969101	hsa-miR-3650	CLIP-seq
MIRT1969102	hsa-miR-4423-3p	CLIP-seq
MIRT1969104	hsa-miR-4695-3p	CLIP-seq
MIRT2205099	hsa-miR-4715-3p	CLIP-seq
MIRT2205100	hsa-miR-4735-5p	CLIP-seq
MIRT907800	hsa-miR-4743	CLIP-seq
MIRT2508432	hsa-miR-4772-3p	CLIP-seq
MIRT2205101	hsa-miR-4775	CLIP-seq
MIRT2508433	hsa-miR-498	CLIP-seq
MIRT2205105	hsa-miR-590-3p	CLIP-seq
MIRT2508431	hsa-miR-1343	CLIP-seq
MIRT1969101	hsa-miR-3650	CLIP-seq
MIRT2205099	hsa-miR-4715-3p	CLIP-seq
MIRT2205100	hsa-miR-4735-5p	CLIP-seq
MIRT907800	hsa-miR-4743	CLIP-seq
MIRT2205101	hsa-miR-4775	CLIP-seq
MIRT2205105	hsa-miR-590-3p	CLIP-seq

Show/Hide all (33)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001676	Process	Long-chain fatty acid metabolic process	IDA	20538056
GO:0001701	Process	In utero embryonic development	IEA
GO:0004095	Function	Carnitine O-palmitoyltransferase activity	EXP	7711730, 20538056
GO:0004095	Function	Carnitine O-palmitoyltransferase activity	IBA
GO:0004095	Function	Carnitine O-palmitoyltransferase activity	IDA	20538056
GO:0004095	Function	Carnitine O-palmitoyltransferase activity	IEA
GO:0004095	Function	Carnitine O-palmitoyltransferase activity	NAS	1988962
GO:0005515	Function	Protein binding	IPI	28514442, 32296183, 33961781
GO:0005654	Component	Nucleoplasm	IDA
GO:0005730	Component	Nucleolus	IDA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IDA
GO:0005739	Component	Mitochondrion	IEA
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005743	Component	Mitochondrial inner membrane	NAS	1988962
GO:0005743	Component	Mitochondrial inner membrane	TAS
GO:0005759	Component	Mitochondrial matrix	IEA
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006631	Process	Fatty acid metabolic process	IEA
GO:0006635	Process	Fatty acid beta-oxidation	IBA
GO:0006635	Process	Fatty acid beta-oxidation	IDA	20538056
GO:0006635	Process	Fatty acid beta-oxidation	IEA
GO:0006853	Process	Carnitine shuttle	IEA
GO:0006853	Process	Carnitine shuttle	TAS
GO:0008458	Function	Carnitine O-octanoyltransferase activity	IEA
GO:0009437	Process	Carnitine metabolic process	IDA	20538056
GO:0016020	Component	Membrane	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0016746	Function	Acyltransferase activity	IDA	20538056
GO:0016746	Function	Acyltransferase activity	IEA
GO:0120162	Process	Positive regulation of cold-induced thermogenesis	IEA
GO:0120162	Process	Positive regulation of cold-induced thermogenesis	ISS	25578732

MIM	HGNC	e!Ensembl
600650	2330	ENSG00000157184

P23786

Protein name

Carnitine O-palmitoyltransferase 2, mitochondrial (EC 2.3.1.21) (Carnitine palmitoyltransferase II) (CPT II)

Protein function

Involved in the intramitochondrial synthesis of acylcarnitines from accumulated acyl-CoA metabolites (PubMed:20538056, PubMed:24780397). Reconverts acylcarnitines back into the respective acyl-CoA esters that can then undergo beta-oxidation, an

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00755	Carn_acyltransf	49 → 648	Choline/Carnitine o-acyltransferase	Family

Sequence

MVPRLLLRAWPRGPAVGPGAPSRPLSAGSGPGQYLQRSIVPTMHYQDSLPRLPIPKLEDT
IRRYLSAQKPLLNDGQFRKTEQFCKSFENGIGKELHEQLVALDKQNKHTSYISGPWFDMY
LSARDSVVLNFNPFMAFNPDPKSEYNDQLTRATNMTVSAIRFLKTLRAGLLEPEVFHLNP
AKSDTITFKRLIRFVPSSLSWYGAYLVNAYPLDMSQYFRLFNSTRLPKPSRDELFTDDKA
RHLLVLRKGNFYIFDVLDQDGNIVSPSEIQAHLKYILSDSSPAPEFPLAYLTSENRDIWA
ELRQKLMSSGNEESLRKVDSAVFCLCLDDFPIKDLVHLSHNMLHGDGTNRWFDKSFNLII
AKDGSTAVHFEHSWGDGVAVLRFFNEVFKDSTQTPAVTPQSQPATTDSTVTVQKLNFELT
DALKTGITAAKEKFDATMKTLTIDCVQFQRGGKEFLKKQKLSPDAVAQLAFQMAFLRQYG
QTVATYESCSTAAFKHGRTETIRPASVYTKRCSEAFVREPSRHSAGELQQMMVECSKYHG
QLTKEAAMGQGFDRHLFALRHLAAAKGIILPELYLDPAYGQINHNVLSTSTLSSPAVNLG
GFAPVVSDGFGVGYAVHDNWIGCNVSSYPGRNAREFLQCVEKALEDMFDALEGKSIKS

Sequence length

658

Interactions

View interactions

	KEGG		Reactome
	Fatty acid degradation Fatty acid metabolism PPAR signaling pathway Thermogenesis Diabetic cardiomyopathy		PPARA activates gene expression Carnitine metabolism

2112

Show/Hide Causal Diseases (21)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormality of the musculature	Likely pathogenic; Pathogenic	rs74315294	RCV001813968
Abnormality of the nervous system	Likely pathogenic; Pathogenic	rs74315295	RCV001270097
Acute myeloid leukemia	Likely pathogenic; Pathogenic	rs74315294	RCV005887396
Acute rhabdomyolysis	Pathogenic; Likely pathogenic	rs772240606, rs1057517729, rs397509431	RCV005865560 RCV005865307 RCV005865229
Adrenocortical carcinoma, hereditary	Likely pathogenic; Pathogenic	rs74315294	RCV005887399
Carnitine palmitoyl transferase II deficiency, myopathic form	Pathogenic; Likely pathogenic	rs200080591, rs749895856, rs1374482155, rs772240606, rs539239516, rs515726177, rs1446745791, rs727503887, rs2525558530, rs2525566830, rs756931329, rs2525570359, rs201065226, rs1416248797, rs74315293 View all (41 more)	RCV005014717 RCV005014518 RCV005014536 RCV002249838 RCV005014550 RCV002477298 RCV005025510 RCV002498726 RCV002306739 RCV002310052 RCV002310462 RCV000762944 RCV005021659 RCV000411770 RCV005019460 RCV000415574 RCV000009510 RCV000009511 RCV000009513 RCV000415611 RCV000009518 RCV000009519 RCV002496314 RCV000009528 RCV000009529 RCV000409888 RCV005021996 RCV000409552 RCV000412215 RCV000410121 RCV000409793 RCV000410328 RCV000409430 RCV000409968 RCV000411620 RCV000409771 RCV000411622 RCV000410758 RCV000409947 RCV000411274 RCV000411662 RCV000409282 RCV002505999 RCV002483563 RCV005019054 RCV002493116 RCV005019101 RCV005019157 RCV005027795 RCV005027801 RCV005021088 RCV000754722 RCV002507406 RCV002481943 RCV005029587 RCV005029610 RCV002490673
Carnitine palmitoyl transferase II deficiency, neonatal form	Likely pathogenic; Pathogenic	rs1645411052, rs200080591, rs749895856, rs1374482155, rs539239516, rs515726177, rs1446745791, rs727503887, rs2525558530, rs2525566830, rs756931329, rs2525570359, rs201065226, rs1416248797, rs74315293 View all (41 more)	RCV005361767 RCV005014717 RCV005014518 RCV005014536 RCV005014550 RCV002477298 RCV005025510 RCV002498726 RCV002306739 RCV002310052 RCV002310462 RCV000762944 RCV005021659 RCV000410924 RCV005019460 RCV002476950 RCV000194764 RCV000762941 RCV000411002 RCV001004160 RCV000009524 RCV000009526 RCV000408956 RCV005021996 RCV000412110 RCV000410873 RCV000409193 RCV000411956 RCV000408985 RCV000412442 RCV000409099 RCV000411103 RCV000412327 RCV000410673 RCV000409790 RCV000409024 RCV000410441 RCV000410325 RCV000411459 RCV002505999 RCV002483563 RCV005019054 RCV002493116 RCV005019101 RCV005019157 RCV005027795 RCV005027801 RCV005021088 RCV005029406 RCV001004161 RCV002507406 RCV001030040 RCV002481943 RCV005029587 RCV005029610 RCV001281244 RCV002490673
Carnitine palmitoyl transferase II deficiency, severe infantile form	Pathogenic; Likely pathogenic	rs200080591, rs749895856, rs1374482155, rs539239516, rs2100254724, rs771406546, rs515726177, rs1446745791, rs1287533399, rs727503887, rs2525558530, rs2525566830, rs786204647, rs755395180, rs756931329 View all (67 more)	RCV003452000 RCV005014518 RCV003450072 RCV005014550 RCV001580675 RCV003451929 RCV000984253 RCV005025510 RCV002267554 RCV000169096 RCV002306739 RCV002310052 RCV002310462 RCV000169434 RCV000169371 RCV000169067 RCV005021659 RCV000409811 RCV003454485 RCV005019460 RCV000009508 RCV000515252 RCV000009512 RCV000675130 RCV000009514 RCV000009516 RCV000009517 RCV001004160 RCV000576348 RCV000009530 RCV005021996 RCV000411079 RCV000409757 RCV000411223 RCV000410888 RCV000411376 RCV000410982 RCV000411515 RCV000409596 RCV000410775 RCV000409126 RCV000411774 RCV000411439 RCV000409314 RCV000409646 RCV000410414 RCV000984251 RCV003449385 RCV000984252 RCV005019054 RCV000673661 RCV000669596 RCV000671888 RCV000674271 RCV000670266 RCV000667150 RCV000672774 RCV000673357 RCV000670602 RCV000666078 RCV000670434 RCV000664606 RCV000673171 RCV000673472 RCV000671434 RCV000668377 RCV000668773 RCV000668263 RCV000670313 RCV000673392 RCV000671985 RCV000665286 RCV000674530 RCV000668246 RCV000669311 RCV003453477 RCV005029406 RCV001004161 RCV002507406 RCV003455254 RCV002481943 RCV003455162 RCV003446598 RCV001175200 RCV000576522
Carnitine palmitoyltransferase II deficiency	Likely pathogenic; Pathogenic	rs1645411052, rs200080591, rs748182542, rs749895856, rs1374482155, rs2100259785, rs778895906, rs745547578, rs2100272595, rs2100274299, rs964928101, rs539239516, rs752373512, rs771406546, rs1553169716 View all (120 more)	RCV001880626 RCV001904234 RCV001359188 RCV001379072 RCV001386849 RCV001385036 RCV001388294 RCV001388482 RCV001389887 RCV001386807 RCV001385936 RCV001390611 RCV001526930 RCV002034545 RCV001894642 RCV001937061 RCV000202505 RCV000202567 RCV001960554 RCV002029765 RCV001905923 RCV001947223 RCV002007202 RCV001973953 RCV001891713 RCV001993391 RCV002007514 RCV001942147 RCV001939674 RCV001875028 RCV001911496 RCV001958568 RCV001958574 RCV001956469 RCV001963271 RCV001983055 RCV001965016 RCV004801181 RCV000539401 RCV002515200 RCV001850399 RCV000689502 RCV003076730 RCV003084242 RCV002627981 RCV002648155 RCV002663229 RCV000707179 RCV000778986 RCV002710400 RCV002816246 RCV002862775 RCV002928474 RCV002932167 RCV002939143 RCV002988541 RCV002993689 RCV003030176 RCV000202472 RCV000202499 RCV000202440 RCV004766994 RCV000202449 RCV000202437 RCV000202462 RCV000202513 RCV000202466 RCV001851765 RCV003581557 RCV000202546 RCV003741350 RCV003741358 RCV003581941 RCV003581961 RCV003582232 RCV003582392 RCV003582438 RCV003582632 RCV003581361 RCV003581239 RCV003581332 RCV003581419 RCV003582699 RCV003582958 RCV003583007 RCV003583094 RCV003741449 RCV003741523 RCV003741840 RCV003741880 RCV003740855 RCV003833853 RCV005637096 RCV005614406 RCV001861402 RCV001042031 RCV005090654 RCV000801602 RCV005090655 RCV002524627 RCV003741177 RCV001218021 RCV002524020 RCV000588722 RCV000635360 RCV000635361 RCV002531231 RCV001218379 RCV001861748 RCV003581704 RCV001855592 RCV002531338 RCV001377418 RCV002532099 RCV005091954 RCV002530652 RCV001215229 RCV000699884 RCV000781317 RCV000808205 RCV000809583 RCV001056378 RCV001070929 RCV001061642 RCV001070827 RCV001069385 RCV001054616 RCV001048609 RCV001038686 RCV001048269 RCV001042996 RCV001215599 RCV001219756 RCV001229235 RCV001226062 RCV001236821 RCV001227857 RCV001248419 RCV003741251 RCV000202516
Clear cell carcinoma of kidney	Likely pathogenic; Pathogenic	rs74315294	RCV005887400
CPT2-related disorder	Likely pathogenic; Pathogenic	rs756931329, rs74315296, rs74315298, rs2100261957, rs2525596224, rs201966320	RCV003947445 RCV005249985 RCV003934818 RCV003416771 RCV003982619 RCV004746220
Encephalopathy, acute, infection-induced, susceptibility to, 4	Pathogenic; Likely pathogenic	rs200080591, rs749895856, rs1374482155, rs778895906, rs539239516, rs515726177, rs1446745791, rs766004699, rs751253358, rs727503887, rs756931329, rs2525570359, rs370157946, rs201065226, rs368311455 View all (62 more)	RCV003475122 RCV004570933 RCV003473972 RCV003473985 RCV003473998 RCV002477298 RCV005025510 RCV003475259 RCV003475190 RCV002498726 RCV000762944 RCV005021659 RCV003475410 RCV002500569 RCV003474941 RCV003475413 RCV003475453 RCV002476950 RCV000515252 RCV000762941 RCV003473064 RCV000762943 RCV002490348 RCV003473067 RCV000762942 RCV003475730 RCV003475731 RCV003475732 RCV003475733 RCV003475735 RCV003475736 RCV003475737 RCV003475738 RCV003475739 RCV003475740 RCV003475741 RCV003475742 RCV004574060 RCV004574089 RCV004575686 RCV004575688 RCV004575689 RCV004575690 RCV004575692 RCV004575693 RCV004575694 RCV002481265 RCV003475976 RCV003475987 RCV005018706 RCV000762945 RCV003475981 RCV002505999 RCV003476186 RCV002483563 RCV003471991 RCV004568527 RCV002493116 RCV003472085 RCV003472075 RCV005019101 RCV003472156 RCV003472124 RCV004568553 RCV005027795 RCV004568523 RCV003472233 RCV003472272 RCV003472318 RCV002507406 RCV003473661 RCV004570250 RCV003473653 RCV002481943 RCV003473618 RCV003473635 RCV002490673
Hepatocellular carcinoma	Likely pathogenic; Pathogenic	rs74315294	RCV005887397
Lung cancer	Likely pathogenic; Pathogenic	rs74315294	RCV005887405
Melanoma	Likely pathogenic; Pathogenic	rs74315294	RCV005887404
Nonpapillary renal cell carcinoma	Likely pathogenic; Pathogenic	rs74315294	RCV005887398
Ovarian serous cystadenocarcinoma	Likely pathogenic; Pathogenic	rs74315294	RCV005887401
Rhabdomyolysis	Likely pathogenic; Pathogenic	rs74315294	RCV000662284
Seizure	Likely pathogenic; Pathogenic	rs74315295	RCV001270097
Thymoma	Likely pathogenic; Pathogenic	rs74315294	RCV005887402
Thyroid cancer, nonmedullary, 1	Likely pathogenic; Pathogenic	rs74315294	RCV005887403

Show/Hide Unknown Diseases (8)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Cervical cancer	Benign; Likely benign	rs2229291	RCV005886146
Kidney damage	Uncertain significance	rs756414686	RCV000991316
Malignant lymphoma, large B-cell, diffuse	Benign; Likely benign	rs2229291	RCV005886147
Microcephaly	Uncertain significance	rs773788921	RCV001252856
Myopathy	Uncertain significance	rs756414686	RCV000991316
See cases	Uncertain significance	rs2525589351, rs1441611996	RCV004584520 RCV004584521
Uterine carcinosarcoma	Benign; Likely benign	rs2229291	RCV005886149
Uterine corpus endometrial carcinoma	Benign; Likely benign; Conflicting classifications of pathogenicity	rs2229291, rs142790440	RCV005886152 RCV005901129

Show/Hide Text Mining Associations (43)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Acute Kidney Injury	Associate	27034144, 31085678, 31770251
Adenocarcinoma of Lung	Associate	34229638
Amino Acid Metabolism Inborn Errors	Associate	28779239
Brain Diseases Metabolic	Associate	25781464
Carnitine palmitoyl transferase 2 deficiency	Associate	27034144, 30149802, 35572607
Carnitine palmitoyl transferase 2 deficiency	Inhibit	32129275, 35572607
Carnitine Palmitoyltransferase II Deficiency Infantile	Associate	25781464, 27629963, 30262761, 31770251, 34063237, 38168614
Carnitine Palmitoyltransferase II Deficiency Infantile	Stimulate	31085678
Carnitine Palmitoyltransferase II Deficiency Infantile	Inhibit	31770251
Chanarin Dorfman Syndrome	Associate	29271911, 30912279, 40225143
Colonic Neoplasms	Associate	36177002, 38179743
Colorectal Neoplasms	Associate	31893510, 32953885, 34740325, 37926998, 38186579
Colorectal Neoplasms	Inhibit	36195841
Death Sudden	Associate	19904456
Fetal Growth Retardation	Associate	37764661
Fever	Associate	15811315, 21816645
Glioblastoma	Associate	36838582
Guillain Barre Syndrome	Associate	34763483
Heart Diseases	Associate	26913919
Heart Failure	Associate	37950149
Hyper IgM Immunodeficiency Syndrome Type 1	Associate	35572607
Inflammation	Inhibit	23928362
Influenza Human	Associate	15811315, 21816645
Kidney Diseases	Associate	27034144
Kozlowski Tsuruta Taki syndrome	Associate	29271911
Liver Diseases	Associate	39840890
Mitochondrial Diseases	Associate	21378393
Mitral Valve Insufficiency	Associate	27250500
Muscular Diseases	Associate	29271911, 35572607
Myalgia	Associate	19904456, 27034144
Myoglobinuria	Associate	27034144
Neoplasms	Associate	36142793, 36177002, 36195841, 37543674
Neoplasms	Inhibit	37926998
Obesity	Associate	33185172, 36371454
Prader Willi Syndrome	Associate	30793526
Pre Eclampsia	Associate	37764661
Pulmonary Edema	Associate	33166306
Rhabdomyolysis	Associate	19904456, 31085678, 31770251, 32978841
Schmid Fraccaro syndrome	Associate	26913919
Smooth Muscle Tumor	Associate	33833033
Status Asthmaticus	Associate	33833033
Urinary Bladder Neoplasms	Associate	27189278
VLCAD deficiency	Associate	21378393

CPT2 (carnitine palmitoyltransferase 2)