CPT1A[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146304	GRCh38/hg38 11q13.2-13.3(chr11:67217264-69448598)x1	ACY3, AIP +206 more	Copy number loss	See cases	GLikely pathogenic
Select item 153941	GRCh38/hg38 11q13.2-13.4(chr11:68031693-71593495)x1	ACTE1P, ANO1 +184 more	Copy number loss	See cases	GLikely pathogenic
Select item 148930	GRCh38/hg38 11q13.2-13.3(chr11:68205963-69580475)x3	C11orf24, CPT1A +96 more	Copy number gain	See cases	GLikely benign
Select item 1183703	NC_000011.10:g.68754585G>A	CPT1A	Single nucleotide variant	not provided	GBenign
Select item 1218063	NM_001031847.3(CPT1A):c.*68A>G	CPT1A	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1553210	NM_001876.4(CPT1A):c.2322A>G (p.Ter774=)	CPT1A	Single nucleotide variant (synonymous variant +1 more)	Carnitine palmitoyl transferase 1A deficiency	GLikely benign
Select item 1529208	NM_001876.4(CPT1A):c.2313C>T (p.Ser771=)	CPT1A	Single nucleotide variant (synonymous variant +1 more)	Carnitine palmitoyl transferase 1A deficiency	GLikely benign
Select item 2171546	NM_001876.4(CPT1A):c.2309A>G (p.Asn770Ser)	CPT1A (N770S)	Single nucleotide variant (missense variant +1 more)	Carnitine palmitoyl transferase 1A deficiency	GUncertain significance
Select item 2313537	NM_001876.4(CPT1A):c.2306C>G (p.Ser769Cys)	CPT1A (S769C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2820996	NM_001876.4(CPT1A):c.2298T>G (p.Gly766=)	CPT1A	Single nucleotide variant (synonymous variant +1 more)	Carnitine palmitoyl transferase 1A deficiency	GLikely benign
Select item 834217	NM_001876.4(CPT1A):c.2293T>C (p.Phe765Leu)	CPT1A (F765L)	Single nucleotide variant (missense variant +1 more)	Carnitine palmitoyl transferase 1A deficiency	GUncertain significance
Select item 1937170	NM_001876.4(CPT1A):c.2292G>A (p.Leu764=)	CPT1A	Single nucleotide variant (synonymous variant +1 more)	Carnitine palmitoyl transferase 1A deficiency	GLikely benign
Select item 2872771	NM_001876.4(CPT1A):c.2284A>G (p.Ile762Val)	CPT1A (I762V)	Single nucleotide variant (missense variant +1 more)	Carnitine palmitoyl transferase 1A deficiency	GUncertain significance
Select item 1142460	NM_001876.4(CPT1A):c.2283C>T (p.Ile761=)	CPT1A	Single nucleotide variant (synonymous variant +1 more)	Carnitine palmitoyl transferase 1A deficiency	GLikely benign
Select item 1118268	NM_001876.4(CPT1A):c.2280C>T (p.Asp760=)	CPT1A	Single nucleotide variant (synonymous variant +1 more)	Carnitine palmitoyl transferase 1A deficiency	GLikely benign
Select item 1544043	NM_001876.4(CPT1A):c.2271A>C (p.Ala757=)	CPT1A	Single nucleotide variant (synonymous variant +1 more)	Carnitine palmitoyl transferase 1A deficiency	GLikely benign
Select item 802697	NM_001876.4(CPT1A):c.2259_2261dup (p.Leu754dup)	CPT1A	Duplication (inframe_insertion +1 more)	Carnitine palmitoyl transferase 1A deficiency	GLikely pathogenic
Select item 1981425	NM_001876.4(CPT1A):c.2260C>A (p.Leu754Met)	CPT1A (L754M)	Single nucleotide variant (missense variant +1 more)	Carnitine palmitoyl transferase 1A deficiency	GUncertain significance
Select item 509737	NM_001876.4(CPT1A):c.2260C>T (p.Leu754=)	CPT1A	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 1588867	NM_001876.4(CPT1A):c.2259C>T (p.His753=)	CPT1A	Single nucleotide variant (synonymous variant +1 more)	Carnitine palmitoyl transferase 1A deficiency	GLikely benign
Select item 2446574	NM_001876.4(CPT1A):c.2246G>T (p.Arg749Leu)	CPT1A (R749L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1160563	NM_001876.4(CPT1A):c.2244T>C (p.His748=)	CPT1A	Single nucleotide variant (synonymous variant +1 more)	Carnitine palmitoyl transferase 1A deficiency	GLikely benign
Select item 960747	NM_001876.4(CPT1A):c.2243A>T (p.His748Leu)	CPT1A (H748L)	Single nucleotide variant (missense variant +1 more)	Carnitine palmitoyl transferase 1A deficiency	GUncertain significance
Select item 1051841	NM_001876.4(CPT1A):c.2238T>G (p.Asp746Glu)	CPT1A (D746E)	Single nucleotide variant (missense variant +1 more)	Carnitine palmitoyl transferase 1A deficiency	GUncertain significance
Select item 2818503	NM_001876.4(CPT1A):c.2236G>T (p.Asp746Tyr)	CPT1A (D746Y)	Single nucleotide variant (missense variant +1 more)	Carnitine palmitoyl transferase 1A deficiency	GUncertain significance
Select item 1700620	NM_001876.4(CPT1A):c.2236-1G>T	CPT1A	Single nucleotide variant (intron variant +1 more)	not provided	Gnot provided
Select item 553739	NM_001876.4(CPT1A):c.2236-1G>A	CPT1A	Single nucleotide variant (intron variant +1 more)	Carnitine palmitoyl transferase 1A deficiency	GUncertain significance
Select item 2144192	NM_001876.4(CPT1A):c.2236-7A>C	CPT1A	Single nucleotide variant (intron variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely benign
Select item 1528087	NM_001876.4(CPT1A):c.2236-7A>G	CPT1A	Single nucleotide variant (intron variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely benign
Select item 2845232	NM_001876.4(CPT1A):c.2236-16_2236-10dup	CPT1A	Duplication (intron variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely benign
Select item 2128186	NM_001876.4(CPT1A):c.2236-10T>C	CPT1A	Single nucleotide variant (intron variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely benign
Select item 2898595	NM_001876.4(CPT1A):c.2236-14T>C	CPT1A	Single nucleotide variant (intron variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely benign
Select item 1560094	NM_001876.4(CPT1A):c.2236-14T>G	CPT1A	Single nucleotide variant (intron variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely benign
Select item 2046759	NM_001876.4(CPT1A):c.2236-16T>C	CPT1A	Single nucleotide variant (intron variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely benign
Select item 1687677	NM_001876.4(CPT1A):c.2235+178A>G	CPT1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2708622	NM_001876.4(CPT1A):c.2235+20C>A	CPT1A	Single nucleotide variant (intron variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely benign
Select item 2910532	NM_001876.4(CPT1A):c.2235+16A>G	CPT1A	Single nucleotide variant (intron variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely benign
Select item 2699463	NM_001876.4(CPT1A):c.2235+15A>C	CPT1A	Single nucleotide variant (intron variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely benign
Select item 2795173	NM_001876.4(CPT1A):c.2235+14G>T	CPT1A	Single nucleotide variant (intron variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely benign
Select item 2180146	NM_001876.4(CPT1A):c.2235+14G>A	CPT1A	Single nucleotide variant (intron variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely benign
Select item 991519	NM_001876.4(CPT1A):c.2235+9G>A	CPT1A	Single nucleotide variant (intron variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely benign
Select item 3009119	NM_001876.4(CPT1A):c.2235+8T>C	CPT1A	Single nucleotide variant (intron variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely benign
Select item 515758	NM_001876.4(CPT1A):c.2235+4T>C	CPT1A	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 991520	NM_001876.4(CPT1A):c.2235G>A (p.Thr745=)	CPT1A	Single nucleotide variant (synonymous variant)	Carnitine palmitoyl transferase 1A deficiency	GUncertain significance
Select item 1129920	NM_001876.4(CPT1A):c.2223T>C (p.Ser741=)	CPT1A	Single nucleotide variant (synonymous variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely benign
Select item 1581810	NM_001876.4(CPT1A):c.2205C>T (p.His735=)	CPT1A	Single nucleotide variant (synonymous variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely benign
Select item 194835	NM_001876.4(CPT1A):c.2198A>G (p.Asn733Ser)	CPT1A (N733S)	Single nucleotide variant (missense variant)	Carnitine palmitoyl transferase 1A deficiency +2 more	GConflicting classifications of pathogenicity
Select item 1975258	NM_001876.4(CPT1A):c.2197A>G (p.Asn733Asp)	CPT1A (N733D)	Single nucleotide variant (missense variant)	Carnitine palmitoyl transferase 1A deficiency	GUncertain significance
Select item 1976223	NM_001876.4(CPT1A):c.2193C>A (p.Leu731=)	CPT1A	Single nucleotide variant (synonymous variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely benign
Select item 2698874	NM_001876.4(CPT1A):c.2190C>T (p.Asn730=)	CPT1A	Single nucleotide variant (synonymous variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely benign
Select item 2836941	NM_001876.4(CPT1A):c.2184A>C (p.Gly728=)	CPT1A	Single nucleotide variant (synonymous variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely benign
Select item 2122953	NM_001876.4(CPT1A):c.2184A>G (p.Gly728=)	CPT1A	Single nucleotide variant (synonymous variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely benign
Select item 753803	NM_001876.4(CPT1A):c.2178T>C (p.Leu726=)	CPT1A	Single nucleotide variant (synonymous variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely benign
Select item 794199	NM_001876.4(CPT1A):c.2173A>G (p.Ile725Val)	CPT1A (I725V)	Single nucleotide variant (missense variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely benign
Select item 1580471	NM_001876.4(CPT1A):c.2172C>T (p.Tyr724=)	CPT1A	Single nucleotide variant (synonymous variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely benign
Select item 1553950	NM_001876.4(CPT1A):c.2169G>A (p.Ser723=)	CPT1A	Single nucleotide variant (synonymous variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely benign
Select item 1629644	NM_001876.4(CPT1A):c.2166G>A (p.Val722=)	CPT1A	Single nucleotide variant (synonymous variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely benign
Select item 1957370	NM_001876.4(CPT1A):c.2157C>G (p.Gly719=)	CPT1A	Single nucleotide variant (synonymous variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely benign
Select item 1124729	NM_001876.4(CPT1A):c.2154C>T (p.Asp718=)	CPT1A	Single nucleotide variant (synonymous variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely benign
Select item 1978287	NM_001876.4(CPT1A):c.2149G>A (p.Asp717Asn)	CPT1A (D717N)	Single nucleotide variant (missense variant)	Carnitine palmitoyl transferase 1A deficiency	GUncertain significance
Select item 1083293	NM_001876.4(CPT1A):c.2148T>C (p.Ala716=)	CPT1A	Single nucleotide variant (synonymous variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely benign
Select item 2754570	NM_001876.4(CPT1A):c.2143-4C>T	CPT1A	Single nucleotide variant (intron variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely benign
Select item 1627555	NM_001876.4(CPT1A):c.2143-6C>T	CPT1A	Single nucleotide variant (intron variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely benign
Select item 2182349	NM_001876.4(CPT1A):c.2143-12C>G	CPT1A	Single nucleotide variant (intron variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely benign
Select item 1208160	NM_001876.4(CPT1A):c.2143-87G>A	CPT1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1264511	NM_001876.4(CPT1A):c.2143-225GT[8]	CPT1A	Microsatellite (intron variant)	not provided	GBenign
Select item 1177467	NM_001876.4(CPT1A):c.2142+93C>T	CPT1A	Single nucleotide variant (intron variant)	Carnitine palmitoyl transferase 1A deficiency +1 more	GBenign
Select item 2857747	NM_001876.4(CPT1A):c.2142+19G>A	CPT1A	Single nucleotide variant (intron variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely benign
Select item 2140941	NM_001876.4(CPT1A):c.2142+12G>A	CPT1A	Single nucleotide variant (intron variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely benign
Select item 1396422	NM_001876.4(CPT1A):c.2142+11C>T	CPT1A	Single nucleotide variant (intron variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely benign
Select item 386614	NM_001876.4(CPT1A):c.2142+9G>A	CPT1A	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 1133952	NM_001876.4(CPT1A):c.2142+8C>A	CPT1A	Single nucleotide variant (intron variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely benign
Select item 282930	NM_001876.4(CPT1A):c.2142+8C>T	CPT1A	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 1018533	NM_001876.4(CPT1A):c.2142+6T>C	CPT1A	Single nucleotide variant (intron variant)	Carnitine palmitoyl transferase 1A deficiency +1 more	GUncertain significance
Select item 2703281	NM_001876.4(CPT1A):c.2142+2T>C	CPT1A	Single nucleotide variant (splice donor variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely pathogenic
Select item 377755	NM_001876.4(CPT1A):c.2142G>A (p.Pro714=)	CPT1A	Single nucleotide variant (synonymous variant)	CPT1A-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 2180784	NM_001876.4(CPT1A):c.2138G>T (p.Gly713Val)	CPT1A (G713V)	Single nucleotide variant (missense variant)	Carnitine palmitoyl transferase 1A deficiency	GUncertain significance
Select item 2680915	NM_001876.4(CPT1A):c.2136del (p.Phe712fs)	CPT1A (F712fs)	Deletion (frameshift variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely pathogenic
Select item 2771275	NM_001876.4(CPT1A):c.2130G>A (p.Gly710=)	CPT1A	Single nucleotide variant (synonymous variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely benign
Select item 9071	NM_001876.4(CPT1A):c.2129G>A (p.Gly710Glu)	CPT1A (G710E)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2860095	NM_001876.4(CPT1A):c.2128G>C (p.Gly710Arg)	CPT1A (G710R)	Single nucleotide variant (missense variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely pathogenic
Select item 9069	NM_001876.4(CPT1A):c.2126G>A (p.Gly709Glu)	CPT1A (G709E)	Single nucleotide variant (missense variant)	Carnitine palmitoyl transferase 1A deficiency	GPathogenic
Select item 2176267	NM_001876.4(CPT1A):c.2125G>A (p.Gly709Arg)	CPT1A (G709R)	Single nucleotide variant (missense variant)	Carnitine palmitoyl transferase 1A deficiency	GUncertain significance
Select item 861268	NM_001876.4(CPT1A):c.2124C>A (p.Ser708Arg)	CPT1A (S708R)	Single nucleotide variant (missense variant)	Carnitine palmitoyl transferase 1A deficiency	GUncertain significance
Select item 766278	NM_001876.4(CPT1A):c.2124C>T (p.Ser708=)	CPT1A	Single nucleotide variant (synonymous variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely benign
Select item 1935202	NM_001876.4(CPT1A):c.2122A>G (p.Ser708Gly)	CPT1A (S708G)	Single nucleotide variant (missense variant)	Carnitine palmitoyl transferase 1A deficiency	GUncertain significance
Select item 3076914	NM_001876.4(CPT1A):c.2116G>A (p.Val706Met)	CPT1A (V706M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1116509	NM_001876.4(CPT1A):c.2115C>T (p.Tyr705=)	CPT1A	Single nucleotide variant (synonymous variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely benign
Select item 2150036	NM_001876.4(CPT1A):c.2108C>T (p.Pro703Leu)	CPT1A (P703L)	Single nucleotide variant (missense variant)	Carnitine palmitoyl transferase 1A deficiency	GUncertain significance
Select item 2146247	NM_001876.4(CPT1A):c.2107C>A (p.Pro703Thr)	CPT1A (P703T)	Single nucleotide variant (missense variant)	Carnitine palmitoyl transferase 1A deficiency	GUncertain significance
Select item 9068	NM_001031847.2(CPT1A):c.(?_1744)_2107del (p.Met582Glnfs)	CPT1A	Deletion	Carnitine palmitoyl transferase 1A deficiency	GPathogenic
Select item 1536977	NM_001876.4(CPT1A):c.2103T>C (p.Asn701=)	CPT1A	Single nucleotide variant (synonymous variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely benign
Select item 1166736	NM_001876.4(CPT1A):c.2100G>A (p.Glu700=)	CPT1A	Single nucleotide variant (synonymous variant)	Carnitine palmitoyl transferase 1A deficiency	GBenign
Select item 2193364	NM_001876.4(CPT1A):c.2099A>G (p.Glu700Gly)	CPT1A (E700G)	Single nucleotide variant (missense variant)	Carnitine palmitoyl transferase 1A deficiency	GUncertain significance
Select item 1415549	NM_001876.4(CPT1A):c.2090T>C (p.Phe697Ser)	CPT1A (F697S)	Single nucleotide variant (missense variant)	Carnitine palmitoyl transferase 1A deficiency	GUncertain significance
Select item 1083350	NM_001876.4(CPT1A):c.2088G>C (p.Leu696=)	CPT1A	Single nucleotide variant (synonymous variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely benign
Select item 1081112	NM_001876.4(CPT1A):c.2088G>A (p.Leu696=)	CPT1A	Single nucleotide variant (synonymous variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely benign
Select item 1514839	NM_001876.4(CPT1A):c.2084A>G (p.Glu695Gly)	CPT1A (E695G)	Single nucleotide variant (missense variant)	Carnitine palmitoyl transferase 1A deficiency	GUncertain significance
Select item 1564063	NM_001876.4(CPT1A):c.2082G>A (p.Val694=)	CPT1A	Single nucleotide variant (synonymous variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely benign
Select item 1930637	NM_001876.4(CPT1A):c.2076G>A (p.Gln692=)	CPT1A	Single nucleotide variant (synonymous variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely benign

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