"Fulgent Genetics, Fulgent Genetics"[submitter] AND "CPT2"[gene] - ClinVar

Search results

Items: 78

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 297594	NM_000098.3(CPT2):c.-282C>T	CPT2	Single nucleotide variant	Carnitine palmitoyltransferase II deficiency +4 more	GUncertain significance
Select item 1669628	NM_000098.3(CPT2):c.15G>C (p.Leu5=)	CPT2, LOC129930561	Single nucleotide variant (synonymous variant)	Carnitine palmitoyltransferase II deficiency +4 more	GLikely benign
Select item 556806	NM_000098.3(CPT2):c.37_39del (p.Gly13del)	CPT2, LOC129930561 (G13del)	Deletion (inframe_deletion)	Carnitine palmitoyl transferase II deficiency, severe infantile form +4 more	GUncertain significance
Select item 943040	NM_000098.3(CPT2):c.65G>A (p.Ser22Asn)	CPT2, LOC129930561 (S22N)	Single nucleotide variant (missense variant)	Carnitine palmitoyl transferase II deficiency, severe infantile form +4 more	GUncertain significance
Select item 371730	NM_000098.3(CPT2):c.75del (p.Ser26fs)	CPT2, LOC129930561 (S26fs)	Deletion (frameshift variant)	Carnitine palmitoyl transferase II deficiency, neonatal form +4 more	GPathogenic/Likely pathogenic
Select item 495549	NM_000098.3(CPT2):c.98del (p.Gln33fs)	CPT2, LOC129930561 (Q33fs)	Deletion (frameshift variant)	Carnitine palmitoyltransferase II deficiency +5 more	GPathogenic
Select item 740236	NM_000098.3(CPT2):c.103C>T (p.Leu35=)	CPT2, LOC129930561	Single nucleotide variant (synonymous variant)	Encephalopathy, acute, infection-induced, susceptibility to, 4 +4 more	GLikely benign
Select item 1539953	NM_000098.3(CPT2):c.135C>T (p.Tyr45=)	CPT2, LOC129930561	Single nucleotide variant (synonymous variant)	Carnitine palmitoyl transferase II deficiency, severe infantile form +4 more	GLikely benign
Select item 8954	NM_000098.3(CPT2):c.149C>A (p.Pro50His)	CPT2, LOC129930561 (P50H)	Single nucleotide variant (missense variant)	Chronic pain +13 more	GPathogenic
Select item 1055686	NM_000098.3(CPT2):c.164C>G (p.Pro55Arg)	CPT2 (P55R)	Single nucleotide variant (missense variant)	Carnitine palmitoyltransferase II deficiency +5 more	GUncertain significance
Select item 1147513	NM_000098.3(CPT2):c.222T>C (p.Asp74=)	CPT2	Single nucleotide variant (synonymous variant)	Encephalopathy, acute, infection-induced, susceptibility to, 4 +4 more	GLikely benign
Select item 8953	NM_000098.3(CPT2):c.338C>T (p.Ser113Leu)	CPT2 (S113L)	Single nucleotide variant (missense variant)	Carnitine palmitoyltransferase II deficiency +7 more	GPathogenic/Likely pathogenic
Select item 8968	NM_000098.3(CPT2):c.359A>G (p.Tyr120Cys)	CPT2 (Y120C)	Single nucleotide variant (missense variant)	Carnitine palmitoyltransferase II deficiency +5 more	GPathogenic/Likely pathogenic
Select item 203659	NM_000098.3(CPT2):c.370C>T (p.Arg124Ter)	CPT2 (R124*)	Single nucleotide variant (nonsense)	Carnitine palmitoyl transferase II deficiency, neonatal form +5 more	GPathogenic/Likely pathogenic
Select item 1379755	NM_000098.3(CPT2):c.377C>G (p.Ser126Cys)	CPT2 (S126C)	Single nucleotide variant (missense variant)	Encephalopathy, acute, infection-induced, susceptibility to, 4 +4 more	GUncertain significance
Select item 1147242	NM_000098.3(CPT2):c.378C>T (p.Ser126=)	CPT2	Single nucleotide variant (synonymous variant)	Encephalopathy, acute, infection-induced, susceptibility to, 4 +5 more	GLikely benign
Select item 855620	NM_000098.3(CPT2):c.379G>A (p.Val127Ile)	CPT2 (V127I)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 507147	NM_000098.3(CPT2):c.399A>G (p.Pro133=)	CPT2	Single nucleotide variant (synonymous variant)	Carnitine palmitoyltransferase II deficiency +5 more	GLikely benign
Select item 460435	NM_000098.3(CPT2):c.416C>G (p.Pro139Arg)	CPT2 (P139R)	Single nucleotide variant (missense variant)	Carnitine palmitoyl transferase II deficiency, myopathic form +4 more	GUncertain significance
Select item 130889	NM_000098.3(CPT2):c.452G>A (p.Arg151Gln)	CPT2 (R151Q)	Single nucleotide variant (missense variant)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 1136068	NM_000098.3(CPT2):c.468T>C (p.Thr156=)	CPT2	Single nucleotide variant (synonymous variant)	Encephalopathy, acute, infection-induced, susceptibility to, 4 +4 more	GLikely benign
Select item 529857	NM_000098.3(CPT2):c.500G>A (p.Arg167Gln)	CPT2 (R167Q)	Single nucleotide variant (missense variant)	Carnitine palmitoyl transferase II deficiency, neonatal form +6 more	GConflicting classifications of pathogenicity
Select item 1486923	NM_000098.3(CPT2):c.520G>C (p.Glu174Gln)	CPT2 (E174Q)	Single nucleotide variant (missense variant)	Encephalopathy, acute, infection-induced, susceptibility to, 4 +4 more	GUncertain significance
Select item 655618	NM_000098.3(CPT2):c.578G>A (p.Arg193His)	CPT2 (R193H)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 1338967	NM_000098.3(CPT2):c.611C>T (p.Ala204Val)	CPT2 (A204V)	Single nucleotide variant (missense variant)	Encephalopathy, acute, infection-induced, susceptibility to, 4 +6 more	GUncertain significance
Select item 813641	NM_000098.3(CPT2):c.626C>T (p.Ala209Val)	CPT2 (A209V)	Single nucleotide variant (missense variant)	Carnitine palmitoyl transferase II deficiency, myopathic form +4 more	GUncertain significance
Select item 645541	NM_000098.3(CPT2):c.656G>A (p.Arg219Gln)	CPT2 (R219Q)	Single nucleotide variant (missense variant)	Encephalopathy, acute, infection-induced, susceptibility to, 4 +4 more	GUncertain significance
Select item 1018610	NM_000098.3(CPT2):c.673C>T (p.Arg225Cys)	CPT2 (R225C)	Single nucleotide variant (missense variant)	Carnitine palmitoyltransferase II deficiency +5 more	GUncertain significance
Select item 197107	NM_000098.3(CPT2):c.674G>A (p.Arg225His)	CPT2 (R225H)	Single nucleotide variant (missense variant)	Carnitine palmitoyl transferase II deficiency, severe infantile form +5 more	GConflicting classifications of pathogenicity
Select item 8964	NM_000098.3(CPT2):c.680C>T (p.Pro227Leu)	CPT2 (P227L)	Single nucleotide variant (missense variant)	Carnitine palmitoyltransferase II deficiency +5 more	GPathogenic/Likely pathogenic
Select item 551165	NM_000098.3(CPT2):c.739A>T (p.Arg247Trp)	CPT2 (R247W)	Single nucleotide variant (missense variant)	Encephalopathy, acute, infection-induced, susceptibility to, 4 +3 more	GUncertain significance
Select item 582388	NM_000098.3(CPT2):c.789T>G (p.Ile263Met)	CPT2 (I263M)	Single nucleotide variant (missense variant)	Encephalopathy, acute, infection-induced, susceptibility to, 4 +4 more	GUncertain significance
Select item 460436	NM_000098.3(CPT2):c.833C>T (p.Ser278Leu)	CPT2 (S278L)	Single nucleotide variant (missense variant)	Carnitine palmitoyl transferase II deficiency, myopathic form +4 more	GUncertain significance
Select item 372351	NM_000098.3(CPT2):c.852del (p.Glu285fs)	CPT2 (E285fs)	Deletion (frameshift variant)	Carnitine palmitoyl transferase II deficiency, neonatal form +5 more	GPathogenic/Likely pathogenic
Select item 290583	NM_000098.3(CPT2):c.853G>A (p.Glu285Lys)	CPT2 (E285K)	Single nucleotide variant (missense variant)	Carnitine palmitoyl transferase II deficiency, neonatal form +5 more	GUncertain significance
Select item 166953	NM_000098.3(CPT2):c.886C>T (p.Arg296Ter)	CPT2 (R296*)	Single nucleotide variant (nonsense)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 374946	NM_000098.3(CPT2):c.921G>A (p.Met307Ile)	CPT2 (M307I)	Single nucleotide variant (missense variant)	Carnitine palmitoyltransferase II deficiency +5 more	GUncertain significance
Select item 554735	NM_000098.3(CPT2):c.930C>T (p.Gly310=)	CPT2	Single nucleotide variant (synonymous variant)	Carnitine palmitoyl transferase II deficiency, neonatal form +4 more	GConflicting classifications of pathogenicity
Select item 166954	NM_000098.3(CPT2):c.953T>G (p.Val318Gly)	CPT2 (V318G)	Single nucleotide variant (missense variant)	Carnitine palmitoyl transferase II deficiency, myopathic form +5 more	GUncertain significance
Select item 558056	NM_000098.3(CPT2):c.989dup (p.Ile332fs)	CPT2 (I332fs)	Duplication (frameshift variant)	Carnitine palmitoyl transferase II deficiency, severe infantile form +4 more	GPathogenic/Likely pathogenic
Select item 853896	NM_000098.3(CPT2):c.1016C>T (p.Ser339Phe)	CPT2 (S339F)	Single nucleotide variant (missense variant)	Encephalopathy, acute, infection-induced, susceptibility to, 4 +5 more	GUncertain significance
Select item 376799	NM_000098.3(CPT2):c.1025T>C (p.Met342Thr)	CPT2 (M342T)	Single nucleotide variant (missense variant)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 1079247	NM_000098.3(CPT2):c.1080C>T (p.Ile360=)	CPT2	Single nucleotide variant (synonymous variant)	Carnitine palmitoyltransferase II deficiency +4 more	GLikely benign
Select item 1423479	NM_000098.3(CPT2):c.1124G>T (p.Gly375Val)	CPT2 (G375V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GUncertain significance
Select item 1370451	NM_000098.3(CPT2):c.1145G>C (p.Arg382Thr)	CPT2 (R382T)	Single nucleotide variant (missense variant)	Carnitine palmitoyltransferase II deficiency +4 more	GUncertain significance
Select item 8958	NM_000098.3(CPT2):c.1148T>A (p.Phe383Tyr)	CPT2 (F383Y)	Single nucleotide variant (missense variant)	Carnitine palmitoyl transferase II deficiency, neonatal form +6 more	GPathogenic/Likely pathogenic
Select item 853753	NM_000098.3(CPT2):c.1189G>A (p.Val397Ile)	CPT2 (V397I)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 92430	NM_000098.3(CPT2):c.1239_1240del (p.Lys414fs)	CPT2 (K414fs)	Deletion (frameshift variant)	Carnitine palmitoyl transferase II deficiency, severe infantile form +5 more	GPathogenic
Select item 1106928	NM_000098.3(CPT2):c.1290T>C (p.Ala430=)	CPT2	Single nucleotide variant (synonymous variant)	Encephalopathy, acute, infection-induced, susceptibility to, 4 +4 more	GLikely benign
Select item 1404879	NM_000098.3(CPT2):c.1313T>C (p.Met438Thr)	CPT2 (M438T)	Single nucleotide variant (missense variant)	Encephalopathy, acute, infection-induced, susceptibility to, 4 +4 more	GUncertain significance
Select item 188753	NM_000098.3(CPT2):c.1369A>T (p.Lys457Ter)	CPT2 (K457*)	Single nucleotide variant (nonsense)	Encephalopathy, acute, infection-induced, susceptibility to, 4 +5 more	GPathogenic/Likely pathogenic
Select item 1448133	NM_000098.3(CPT2):c.1376A>T (p.Gln459Leu)	CPT2 (Q459L)	Single nucleotide variant (missense variant)	Encephalopathy, acute, infection-induced, susceptibility to, 4 +4 more	GUncertain significance
Select item 569723	NM_000098.3(CPT2):c.1397T>C (p.Val466Ala)	CPT2 (V466A)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 371750	NM_000098.3(CPT2):c.1414C>T (p.Gln472Ter)	CPT2 (Q472*)	Single nucleotide variant (nonsense)	Carnitine palmitoyl transferase II deficiency, neonatal form +4 more	GPathogenic/Likely pathogenic
Select item 1020752	NM_000098.3(CPT2):c.1424T>A (p.Phe475Tyr)	CPT2 (F475Y)	Single nucleotide variant (missense variant)	Carnitine palmitoyl transferase II deficiency, neonatal form +4 more	GUncertain significance
Select item 577988	NM_000098.3(CPT2):c.1429C>T (p.Arg477Trp)	CPT2 (R477W)	Single nucleotide variant (missense variant)	Carnitine palmitoyl transferase II deficiency, severe infantile form +4 more	GUncertain significance
Select item 447218	NM_000098.3(CPT2):c.1438G>A (p.Gly480Arg)	CPT2 (G480R)	Single nucleotide variant (missense variant)	Encephalopathy, acute, infection-induced, susceptibility to, 4 +7 more	GUncertain significance
Select item 529861	NM_000098.3(CPT2):c.1448T>C (p.Val483Ala)	CPT2 (V483A)	Single nucleotide variant (missense variant)	Carnitine palmitoyl transferase II deficiency, severe infantile form +6 more	GUncertain significance
Select item 529864	NM_000098.3(CPT2):c.1477G>A (p.Ala493Thr)	CPT2 (A493T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +6 more	GConflicting classifications of pathogenicity
Select item 997927	NM_000098.3(CPT2):c.1493G>A (p.Arg498His)	CPT2 (R498H)	Single nucleotide variant (missense variant)	Encephalopathy, acute, infection-induced, susceptibility to, 4 +5 more	GUncertain significance
Select item 8959	NM_000098.3(CPT2):c.1507C>T (p.Arg503Cys)	CPT2 (R503C)	Single nucleotide variant (missense variant)	Carnitine palmitoyltransferase II deficiency +5 more	GPathogenic/Likely pathogenic
Select item 796190	NM_000098.3(CPT2):c.1509C>T (p.Arg503=)	CPT2	Single nucleotide variant (synonymous variant)	Encephalopathy, acute, infection-induced, susceptibility to, 4 +4 more	GLikely benign
Select item 297609	NM_000098.3(CPT2):c.1578T>C (p.Gly526=)	CPT2	Single nucleotide variant (synonymous variant +1 more)	Encephalopathy, acute, infection-induced, susceptibility to, 4 +6 more	GBenign/Likely benign
Select item 566594	NM_000098.3(CPT2):c.1603T>C (p.Cys535Arg)	CPT2 (C535R)	Single nucleotide variant (missense variant +1 more)	Encephalopathy, acute, infection-induced, susceptibility to, 4 +5 more	GUncertain significance
Select item 1625294	NM_000098.3(CPT2):c.1645+14G>T	CPT2	Single nucleotide variant (intron variant)	Carnitine palmitoyl transferase II deficiency, neonatal form +4 more	GLikely benign
Select item 653761	NM_000098.3(CPT2):c.1666_1667del (p.Leu556fs)	CPT2 (L533fs +1 more)	Deletion (frameshift variant)	not provided +5 more	GPathogenic
Select item 460426	NM_000098.3(CPT2):c.1679G>A (p.Arg560Gln)	CPT2 (R560Q +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 804352	NM_000098.3(CPT2):c.1766C>T (p.Thr589Met)	CPT2 (T566M +1 more)	Single nucleotide variant (missense variant)	Rhabdomyolysis +7 more	GUncertain significance
Select item 92432	NM_000098.3(CPT2):c.1767G>A (p.Thr589=)	CPT2	Single nucleotide variant (synonymous variant)	not specified +6 more	GBenign/Likely benign
Select item 509629	NM_000098.3(CPT2):c.1776G>A (p.Leu592=)	CPT2	Single nucleotide variant (synonymous variant)	Carnitine palmitoyl transferase II deficiency, severe infantile form +5 more	GLikely benign
Select item 845527	NM_000098.3(CPT2):c.1816_1817del (p.Val606fs)	CPT2 (V583fs +1 more)	Deletion (frameshift variant)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 976396	NM_000098.3(CPT2):c.1850A>G (p.His617Arg)	CPT2 (H594R +1 more)	Single nucleotide variant (missense variant)	Carnitine palmitoyl transferase II deficiency, severe infantile form +4 more	GUncertain significance
Select item 529860	NM_000098.3(CPT2):c.1851T>C (p.His617=)	CPT2	Single nucleotide variant (synonymous variant)	Encephalopathy, acute, infection-induced, susceptibility to, 4 +4 more	GBenign/Likely benign
Select item 568668	NM_000098.3(CPT2):c.1886C>T (p.Pro629Leu)	CPT2 (P629L +1 more)	Single nucleotide variant (missense variant)	Carnitine palmitoyltransferase II deficiency +6 more	GUncertain significance
Select item 8952	NM_000098.3(CPT2):c.1891C>T (p.Arg631Cys)	CPT2 (R631C +1 more)	Single nucleotide variant (missense variant)	Carnitine palmitoyltransferase II deficiency +5 more	GPathogenic
Select item 966905	NM_000098.3(CPT2):c.1900C>T (p.Arg634Trp)	CPT2 (R611W +1 more)	Single nucleotide variant (missense variant)	Carnitine palmitoyl transferase II deficiency, neonatal form +4 more	GUncertain significance
Select item 1176502	NM_000098.3(CPT2):c.1954G>A (p.Glu652Lys)	CPT2 (E629K +1 more)	Single nucleotide variant (missense variant)	Carnitine palmitoyl transferase II deficiency, severe infantile form +5 more	GUncertain significance
Select item 460432	NM_000098.3(CPT2):c.1972A>C (p.Ser658Arg)	CPT2 (S658R +1 more)	Single nucleotide variant (missense variant)	Carnitine palmitoyl transferase II deficiency, myopathic form +4 more	GUncertain significance

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Items: 78