"GeneDx"[submitter] AND "CPT1A"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 509737	NM_001876.4(CPT1A):c.2260C>T (p.Leu754=)	CPT1A	Single nucleotide variant (synonymous variant +1 more)	Carnitine palmitoyl transferase 1A deficiency +1 more	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 1687677	NM_001876.4(CPT1A):c.2235+178A>G	CPT1A	Single nucleotide variant (intron variant)	not provided	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 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)	not provided +1 more	GBenign
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 282930	NM_001876.4(CPT1A):c.2142+8C>T	CPT1A	Single nucleotide variant (intron variant)	Carnitine palmitoyl transferase 1A deficiency +2 more	GBenign/Likely benign
Select item 377755	NM_001876.4(CPT1A):c.2142G>A (p.Pro714=)	CPT1A	Single nucleotide variant (synonymous variant)	Carnitine palmitoyl transferase 1A deficiency +1 more	GConflicting classifications of pathogenicity
Select item 3373157	NM_001876.4(CPT1A):c.2120C>G (p.Ser707Cys)	CPT1A (S707C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 203654	NM_001876.4(CPT1A):c.2004T>C (p.Ala668=)	CPT1A	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 387345	NM_001876.4(CPT1A):c.1983C>T (p.Tyr661=)	CPT1A	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 203653	NM_001876.4(CPT1A):c.1941C>G (p.Ala647=)	CPT1A	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 287115	NM_001876.4(CPT1A):c.1908G>A (p.Ala636=)	CPT1A	Single nucleotide variant (synonymous variant)	Carnitine palmitoyl transferase 1A deficiency +2 more	GBenign
Select item 1211543	NM_001876.4(CPT1A):c.1876G>C (p.Val626Leu)	CPT1A (V626L)	Single nucleotide variant (missense variant)	Carnitine palmitoyl transferase 1A deficiency +2 more	GUncertain significance
Select item 673761	NM_001876.4(CPT1A):c.1876-203G>A	CPT1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 673760	NM_001876.4(CPT1A):c.1876-223G>C	CPT1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 673759	NM_001876.4(CPT1A):c.1876-256dup	CPT1A	Duplication (intron variant)	not provided	GBenign
Select item 514009	NM_001876.4(CPT1A):c.1875+6G>A	CPT1A	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1293019	NM_001876.4(CPT1A):c.1741-28G>A	CPT1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1223002	NM_001876.4(CPT1A):c.1741-89G>T	CPT1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 508385	NM_001876.4(CPT1A):c.1740+15C>T	CPT1A	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 506868	NM_001876.4(CPT1A):c.1575+8C>T	CPT1A	Single nucleotide variant (intron variant)	Carnitine palmitoyl transferase 1A deficiency +1 more	GBenign/Likely benign
Select item 377754	NM_001876.4(CPT1A):c.1529C>T (p.Pro510Leu)	CPT1A (P510L)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 194201	NM_001876.4(CPT1A):c.1467G>A (p.Met489Ile)	CPT1A (M489I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 389615	NM_001876.4(CPT1A):c.1461C>T (p.Tyr487=)	CPT1A	Single nucleotide variant (synonymous variant)	Carnitine palmitoyl transferase 1A deficiency +2 more	GLikely benign
Select item 848736	NM_001876.4(CPT1A):c.1449C>A (p.His483Gln)	CPT1A (H483Q)	Single nucleotide variant (missense variant)	Carnitine palmitoyl transferase 1A deficiency +2 more	GUncertain significance
Select item 65644	NM_001876.4(CPT1A):c.1436C>T (p.Pro479Leu)	CPT1A (P479L)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 373240	NM_001876.4(CPT1A):c.1394G>A (p.Gly465Glu)	CPT1A (G465E)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 511692	NM_001876.4(CPT1A):c.1392C>T (p.Asn464=)	CPT1A	Single nucleotide variant (synonymous variant)	Carnitine palmitoyl transferase 1A deficiency +1 more	GLikely benign
Select item 189151	NM_001876.4(CPT1A):c.1364A>C (p.Lys455Thr)	CPT1A (K455T)	Single nucleotide variant (missense variant)	Carnitine palmitoyl transferase 1A deficiency +1 more	GPathogenic/Likely pathogenic
Select item 388147	NM_001876.4(CPT1A):c.1353-4G>A	CPT1A	Single nucleotide variant (intron variant)	not specified +2 more	GLikely benign
Select item 1203067	NM_001876.4(CPT1A):c.1353-27A>C	CPT1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1177468	NM_001876.4(CPT1A):c.1353-47G>T	CPT1A	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1239784	NM_001876.4(CPT1A):c.1353-255C>T	CPT1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1192939	NM_001876.4(CPT1A):c.1352+254C>A	CPT1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 678064	NM_001876.4(CPT1A):c.1352+220A>G	CPT1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 390403	NM_001876.4(CPT1A):c.1352+14C>A	CPT1A, LOC126861244	Single nucleotide variant (intron variant)	Carnitine palmitoyl transferase 1A deficiency +1 more	GLikely benign
Select item 681409	NM_001876.4(CPT1A):c.1302G>A (p.Thr434=)	CPT1A, LOC126861244	Single nucleotide variant (synonymous variant)	Carnitine palmitoyl transferase 1A deficiency +1 more	GLikely benign
Select item 516475	NM_001876.4(CPT1A):c.1257G>A (p.Thr419=)	CPT1A, LOC126861244	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 137027	NM_001876.4(CPT1A):c.1251= (p.Phe417=)	CPT1A, LOC126861244	Single nucleotide variant (no sequence alteration)	not specified +1 more	GBenign
Select item 985485	NM_001876.4(CPT1A):c.1184G>C (p.Arg395Pro)	CPT1A, LOC126861244 (R395P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely pathogenic
Select item 1326398	NM_001876.4(CPT1A):c.1164-36C>G	CPT1A, LOC126861244	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1293017	NM_001876.4(CPT1A):c.1164-119A>G	CPT1A, LOC126861244	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1193023	NM_001876.4(CPT1A):c.1164-121A>T	CPT1A, LOC126861244	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1313386	NM_001876.4(CPT1A):c.1129G>A (p.Glu377Lys)	CPT1A (E377K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 381411	NM_001876.4(CPT1A):c.1055G>A (p.Arg352Gln)	CPT1A (R352Q)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 65639	NM_001876.4(CPT1A):c.1027T>G (p.Phe343Val)	CPT1A (F343V)	Single nucleotide variant (missense variant)	Carnitine palmitoyl transferase 1A deficiency +1 more	GConflicting classifications of pathogenicity
Select item 683437	NM_001876.4(CPT1A):c.967+243ATTT[5]	CPT1A	Microsatellite (intron variant)	not provided	GBenign
Select item 1185944	NM_001876.4(CPT1A):c.967+37G>T	CPT1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 392119	NM_001876.4(CPT1A):c.967+11C>G	CPT1A	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 93978	NM_001876.4(CPT1A):c.967+3G>A	CPT1A	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 93977	NM_001876.4(CPT1A):c.963G>A (p.Glu321=)	CPT1A	Single nucleotide variant (synonymous variant)	Carnitine palmitoyl transferase 1A deficiency +2 more	GBenign
Select item 772230	NM_001876.4(CPT1A):c.961G>A (p.Glu321Lys)	CPT1A (E321K)	Single nucleotide variant (missense variant)	Carnitine palmitoyl transferase 1A deficiency +1 more	GConflicting classifications of pathogenicity
Select item 1693056	NM_001876.4(CPT1A):c.883C>T (p.Arg295Cys)	CPT1A (R295C)	Single nucleotide variant (missense variant)	Carnitine palmitoyl transferase 1A deficiency +1 more	GUncertain significance
Select item 1292159	NM_001876.4(CPT1A):c.880-134A>C	CPT1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1204357	NM_001876.4(CPT1A):c.880-233T>C	CPT1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1260001	NM_001876.4(CPT1A):c.880-261T>C	CPT1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 203655	NM_001876.4(CPT1A):c.863G>A (p.Arg288Gln)	CPT1A (R288Q)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 784196	NM_001876.4(CPT1A):c.853A>C (p.Lys285Gln)	CPT1A (K285Q)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 575393	NM_001876.4(CPT1A):c.851G>A (p.Arg284His)	CPT1A (R284H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1218852	NM_001876.4(CPT1A):c.772-33A>G	CPT1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1190399	NM_001876.4(CPT1A):c.772-289A>G	CPT1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1232515	NM_001876.4(CPT1A):c.771+80del	CPT1A	Deletion (intron variant)	not provided	GBenign
Select item 1191557	NM_001876.4(CPT1A):c.771+31C>T	CPT1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 509270	NM_001876.4(CPT1A):c.771+17G>C	CPT1A	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 384852	NM_001876.4(CPT1A):c.771+13G>A	CPT1A	Single nucleotide variant (intron variant)	Carnitine palmitoyl transferase 1A deficiency +1 more	GLikely benign
Select item 514606	NM_001876.4(CPT1A):c.694-9G>A	CPT1A	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 389635	NM_001876.4(CPT1A):c.694-10C>T	CPT1A	Single nucleotide variant (intron variant)	Carnitine palmitoyl transferase 1A deficiency +1 more	GLikely benign
Select item 1212622	NM_001876.4(CPT1A):c.694-193C>A	CPT1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1248474	NM_001876.4(CPT1A):c.694-272G>A	CPT1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1212410	NM_001876.4(CPT1A):c.693+259A>T	CPT1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1254936	NM_001876.4(CPT1A):c.693+37T>C	CPT1A	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1232679	NM_001876.4(CPT1A):c.693+36T>C	CPT1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1293555	NM_001876.4(CPT1A):c.693+34_693+35insAGCG	CPT1A	Insertion (intron variant)	not provided	GBenign
Select item 386076	NM_001876.4(CPT1A):c.693C>T (p.Tyr231=)	CPT1A	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 390074	NM_001876.4(CPT1A):c.556-7A>T	CPT1A	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 93974	NM_001876.4(CPT1A):c.556-12del	CPT1A	Deletion (intron variant)	not specified +1 more	GBenign
Select item 93975	NM_001876.4(CPT1A):c.556-16C>T	CPT1A	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 93976	NM_001876.4(CPT1A):c.556-19T>G	CPT1A	Single nucleotide variant (intron variant)	Carnitine palmitoyl transferase 1A deficiency +2 more	GBenign
Select item 1296728	NM_001876.4(CPT1A):c.555+243ATTTT[12]	CPT1A	Microsatellite (intron variant)	not provided	GBenign
Select item 1182705	NM_001876.4(CPT1A):c.555+243ATTTT[11]	CPT1A	Microsatellite (intron variant)	not provided	GBenign
Select item 1294043	NM_001876.4(CPT1A):c.555+243ATTTT[6]	CPT1A	Microsatellite (intron variant)	not provided	GBenign
Select item 1279362	NM_001876.4(CPT1A):c.555+243ATTTT[7]	CPT1A	Microsatellite (intron variant)	not provided	GBenign
Select item 1247372	NM_001876.4(CPT1A):c.555+243ATTTT[8]	CPT1A	Microsatellite (intron variant)	not provided	GBenign
Select item 1227447	NM_001876.4(CPT1A):c.555+157_555+158del	CPT1A	Microsatellite (intron variant)	not provided	GBenign
Select item 1245685	NM_001876.4(CPT1A):c.555+156del	CPT1A	Deletion (intron variant)	not provided	GBenign
Select item 1219235	NM_001876.4(CPT1A):c.555+156C>T	CPT1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1186665	NM_001876.4(CPT1A):c.555+155del	CPT1A	Deletion (intron variant)	not provided	GLikely benign
Select item 381410	NM_001876.4(CPT1A):c.518G>A (p.Arg173His)	CPT1A (R173H)	Single nucleotide variant (missense variant)	Carnitine palmitoyl transferase 1A deficiency +1 more	GBenign
Select item 1254463	NM_001876.4(CPT1A):c.454-71G>A	CPT1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1283902	NM_001876.4(CPT1A):c.454-162A>G	CPT1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 678470	NM_001876.4(CPT1A):c.454-208C>T	CPT1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289307	NM_001876.4(CPT1A):c.454-222G>C	CPT1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280718	NM_001876.4(CPT1A):c.453+166A>C	CPT1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 377753	NM_001876.4(CPT1A):c.453+9G>A	CPT1A	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 513496	NM_001876.4(CPT1A):c.357C>T (p.Ile119=)	CPT1A	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign

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