ClinVar for MedGen (Select 481790) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3241208	NM_000098.3(CPT2):c.994dup (p.Ile332fs)	CPT2 (I332fs)	Duplication (frameshift variant)	Encephalopathy, acute, infection-induced, susceptibility to, 4	GLikely pathogenic
Select item 3241207	NM_000098.3(CPT2):c.1724del (p.Leu575fs)	CPT2 (L552fs +1 more)	Deletion (frameshift variant)	Encephalopathy, acute, infection-induced, susceptibility to, 4	GLikely pathogenic
Select item 3241206	NM_000098.3(CPT2):c.1279_1280dup (p.Thr428fs)	CPT2 (T428fs)	Duplication (frameshift variant)	Encephalopathy, acute, infection-induced, susceptibility to, 4	GLikely pathogenic
Select item 3241204	NM_000098.3(CPT2):c.29G>A (p.Trp10Ter)	CPT2, LOC129930561 (W10*)	Single nucleotide variant (nonsense)	Encephalopathy, acute, infection-induced, susceptibility to, 4	GLikely pathogenic
Select item 3241203	NM_000098.3(CPT2):c.1577del (p.Gly526fs)	CPT2 (G526fs)	Deletion (frameshift variant +1 more)	Encephalopathy, acute, infection-induced, susceptibility to, 4	GLikely pathogenic
Select item 3241202	NM_000098.3(CPT2):c.1392_1396dup (p.Val466fs)	CPT2 (V466fs)	Duplication (frameshift variant)	Encephalopathy, acute, infection-induced, susceptibility to, 4	GLikely pathogenic
Select item 3241200	NM_000098.3(CPT2):c.1246_1250del (p.Asn416fs)	CPT2 (N416fs)	Deletion (frameshift variant)	Encephalopathy, acute, infection-induced, susceptibility to, 4	GLikely pathogenic
Select item 2733898	NM_000098.3(CPT2):c.1273_1274del (p.Thr425fs)	CPT2 (T425fs)	Deletion (frameshift variant)	Carnitine palmitoyltransferase II deficiency +1 more	GPathogenic
Select item 2700153	NM_000098.3(CPT2):c.975_976del (p.Cys326fs)	CPT2 (C326fs)	Microsatellite (frameshift variant)	Encephalopathy, acute, infection-induced, susceptibility to, 4 +1 more	GPathogenic/Likely pathogenic
Select item 2688862	NM_000098.3(CPT2):c.631C>T (p.Pro211Ser)	CPT2 (P211S)	Single nucleotide variant (missense variant)	Encephalopathy, acute, infection-induced, susceptibility to, 4 +1 more	GConflicting classifications of pathogenicity
Select item 2680949	NM_000098.3(CPT2):c.106dup (p.Gln36fs)	CPT2, LOC129930561 (Q36fs)	Duplication (frameshift variant)	Encephalopathy, acute, infection-induced, susceptibility to, 4	GLikely pathogenic
Select item 2680948	NM_000098.3(CPT2):c.1282dup (p.Thr428fs)	CPT2 (T428fs)	Duplication (frameshift variant)	Encephalopathy, acute, infection-induced, susceptibility to, 4	GLikely pathogenic
Select item 2680947	NM_000098.3(CPT2):c.725dup (p.His242fs)	CPT2 (H242fs)	Duplication (frameshift variant)	Encephalopathy, acute, infection-induced, susceptibility to, 4	GLikely pathogenic
Select item 2680946	NM_000098.3(CPT2):c.1068dup (p.Asn357Ter)	CPT2 (N357*)	Duplication (nonsense)	Encephalopathy, acute, infection-induced, susceptibility to, 4	GLikely pathogenic
Select item 2680945	NM_000098.3(CPT2):c.192C>A (p.Tyr64Ter)	CPT2 (Y64*)	Single nucleotide variant (nonsense)	Encephalopathy, acute, infection-induced, susceptibility to, 4	GLikely pathogenic
Select item 2680944	NM_000098.3(CPT2):c.1444_1447del (p.Thr482fs)	CPT2 (T482fs)	Deletion (frameshift variant)	Encephalopathy, acute, infection-induced, susceptibility to, 4 +1 more	GPathogenic
Select item 2680943	NM_000098.3(CPT2):c.1198_1199del (p.Gln400fs)	CPT2 (Q400fs)	Microsatellite (frameshift variant)	Encephalopathy, acute, infection-induced, susceptibility to, 4	GLikely pathogenic
Select item 2680942	NM_000098.3(CPT2):c.1836del (p.Tyr614fs)	CPT2 (Y591fs +1 more)	Deletion (frameshift variant)	Encephalopathy, acute, infection-induced, susceptibility to, 4	GLikely pathogenic
Select item 2680940	NM_000098.3(CPT2):c.1476_1482dup (p.Lys495fs)	CPT2 (K495fs)	Duplication (frameshift variant)	Encephalopathy, acute, infection-induced, susceptibility to, 4	GLikely pathogenic
Select item 2680939	NM_000098.3(CPT2):c.1143_1144del (p.Arg382fs)	CPT2 (R382fs)	Deletion (frameshift variant)	Carnitine palmitoyltransferase II deficiency +1 more	GPathogenic/Likely pathogenic
Select item 2680938	NM_000098.3(CPT2):c.63dup (p.Ser22fs)	CPT2, LOC129930561 (S22fs)	Duplication (frameshift variant)	Encephalopathy, acute, infection-induced, susceptibility to, 4	GPathogenic
Select item 2680937	NM_000098.3(CPT2):c.1455_1458dup (p.Glu487fs)	CPT2 (E487fs)	Duplication (frameshift variant)	Encephalopathy, acute, infection-induced, susceptibility to, 4	GLikely pathogenic
Select item 2141218	NM_000098.3(CPT2):c.1430G>A (p.Arg477Gln)	CPT2 (R477Q)	Single nucleotide variant (missense variant)	Carnitine palmitoyltransferase II deficiency +6 more	GUncertain significance
Select item 2048995	NM_000098.3(CPT2):c.1806del (p.Phe602fs)	CPT2 (F602fs +1 more)	Deletion (frameshift variant)	Encephalopathy, acute, infection-induced, susceptibility to, 4 +1 more	GPathogenic/Likely pathogenic
Select item 2037412	NM_000098.3(CPT2):c.1523A>G (p.Tyr508Cys)	CPT2 (Y508C)	Single nucleotide variant (missense variant)	Encephalopathy, acute, infection-induced, susceptibility to, 4 +5 more	GUncertain significance
Select item 1959706	NM_000098.3(CPT2):c.257del (p.Ser86fs)	CPT2 (S86fs)	Deletion (frameshift variant)	Carnitine palmitoyltransferase II deficiency +1 more	GPathogenic/Likely pathogenic
Select item 1944741	NM_000098.3(CPT2):c.1437C>G (p.Tyr479Ter)	CPT2 (Y479*)	Single nucleotide variant (nonsense)	Carnitine palmitoyltransferase II deficiency +1 more	GPathogenic/Likely pathogenic
Select item 1708347	NM_000098.3(CPT2):c.1769G>A (p.Ser590Asn)	CPT2 (S567N +1 more)	Single nucleotide variant (missense variant)	Carnitine palmitoyl transferase II deficiency, severe infantile form +5 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 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 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 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 1460363	NM_000098.3(CPT2):c.896_906dup (p.Arg303fs)	CPT2 (R303fs)	Duplication (frameshift variant)	Encephalopathy, acute, infection-induced, susceptibility to, 4 +1 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 1437709	NM_000098.3(CPT2):c.213_214del (p.Leu72fs)	CPT2 (L72fs)	Microsatellite (frameshift variant)	Encephalopathy, acute, infection-induced, susceptibility to, 4 +1 more	GPathogenic/Likely pathogenic
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 1407113	NM_000098.3(CPT2):c.1535G>A (p.Cys512Tyr)	CPT2 (C512Y)	Single nucleotide variant (missense variant)	Carnitine palmitoyltransferase II deficiency +5 more	GUncertain significance
Select item 1404879	NM_000098.3(CPT2):c.1313T>C (p.Met438Thr)	CPT2 (M438T)	Single nucleotide variant (missense variant)	Carnitine palmitoyl transferase II deficiency, myopathic form +5 more	GUncertain significance
Select item 1402823	NM_000098.3(CPT2):c.1822G>C (p.Asp608His)	CPT2 (D585H +1 more)	Single nucleotide variant (missense variant)	Carnitine palmitoyltransferase II deficiency +6 more	GConflicting classifications of pathogenicity
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 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 1363819	NM_000098.3(CPT2):c.1810C>T (p.Pro604Ser)	CPT2 (P581S +1 more)	Single nucleotide variant (missense variant)	Carnitine palmitoyl transferase II deficiency, severe infantile form +5 more	GConflicting classifications of pathogenicity
Select item 1358726	NM_000098.3(CPT2):c.451C>T (p.Arg151Trp)	CPT2 (R151W)	Single nucleotide variant (missense variant)	Carnitine palmitoyltransferase II deficiency +2 more	GPathogenic
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 1310133	NM_000098.3(CPT2):c.1048C>G (p.Arg350Gly)	CPT2 (R350G)	Single nucleotide variant (missense variant)	Carnitine palmitoyl transferase II deficiency, myopathic form +5 more	GUncertain significance
Select item 1200879	NM_000098.3(CPT2):c.122C>T (p.Pro41Leu)	LOC129930561, CPT2 (P41L)	Single nucleotide variant (missense variant)	Carnitine palmitoyltransferase II deficiency +5 more	GUncertain significance
Select item 1176502	NM_000098.3(CPT2):c.1954G>A (p.Glu652Lys)	CPT2 (E629K +1 more)	Single nucleotide variant (missense variant)	not provided +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 1147242	NM_000098.3(CPT2):c.378C>T (p.Ser126=)	CPT2	Single nucleotide variant (synonymous variant)	Carnitine palmitoyl transferase II deficiency, severe infantile form +5 more	GLikely benign
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 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 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 1076646	NM_000098.3(CPT2):c.1660C>T (p.Arg554Ter)	CPT2 (R531* +1 more)	Single nucleotide variant (nonsense)	Carnitine palmitoyltransferase II deficiency +1 more	GPathogenic
Select item 1074855	NM_000098.3(CPT2):c.350_354del (p.Phe117fs)	CPT2 (F117fs)	Deletion (frameshift variant)	Encephalopathy, acute, infection-induced, susceptibility to, 4 +1 more	GPathogenic/Likely pathogenic
Select item 1073763	NM_000098.3(CPT2):c.28_29insAGCAAG (p.Trp10Ter)	CPT2, LOC129930561 (W10*)	Insertion (nonsense)	Carnitine palmitoyl transferase II deficiency, severe infantile form +3 more	GPathogenic
Select item 1067729	NM_000098.3(CPT2):c.1436A>G (p.Tyr479Cys)	CPT2 (Y479C)	Single nucleotide variant (missense variant)	Carnitine palmitoyltransferase II deficiency +1 more	GLikely pathogenic
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 1046379	NM_000098.3(CPT2):c.623A>G (p.Asn208Ser)	CPT2 (N208S)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 1026121	NM_000098.3(CPT2):c.53C>T (p.Pro18Leu)	CPT2, LOC129930561 (P18L)	Single nucleotide variant (missense variant)	Carnitine palmitoyl transferase II deficiency, neonatal form +5 more	GUncertain significance
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 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 1016526	NM_000098.3(CPT2):c.1492C>T (p.Arg498Cys)	CPT2 (R498C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GUncertain significance
Select item 1002319	NM_000098.3(CPT2):c.1645+7C>T	CPT2	Single nucleotide variant (intron variant)	Inborn genetic diseases +5 more	GUncertain significance
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 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 971260	NM_000098.3(CPT2):c.188G>A (p.Arg63Lys)	CPT2 (R63K)	Single nucleotide variant (missense variant)	Carnitine palmitoyl transferase II deficiency, neonatal form +5 more	GUncertain significance
Select item 970940	NM_000098.3(CPT2):c.1901G>A (p.Arg634Gln)	CPT2 (R611Q +1 more)	Single nucleotide variant (missense variant)	Carnitine palmitoyl transferase II deficiency, neonatal form +5 more	GUncertain significance
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 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 941093	NM_000098.3(CPT2):c.1489G>A (p.Gly497Ser)	CPT2 (G497S)	Single nucleotide variant (missense variant)	Carnitine palmitoyl transferase II deficiency, myopathic form +4 more	GUncertain significance
Select item 939316	NM_000098.3(CPT2):c.887G>A (p.Arg296Gln)	CPT2 (R296Q)	Single nucleotide variant (missense variant)	Carnitine palmitoyl transferase II deficiency, myopathic form +5 more	GConflicting classifications of pathogenicity
Select item 856230	NM_000098.3(CPT2):c.256_257del (p.Ser86fs)	CPT2 (S86fs)	Microsatellite (frameshift variant)	Encephalopathy, acute, infection-induced, susceptibility to, 4 +1 more	GPathogenic
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 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 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 851878	NM_000098.3(CPT2):c.200C>G (p.Ala67Gly)	CPT2 (A67G)	Single nucleotide variant (missense variant)	not provided +3 more	GLikely pathogenic
Select item 850446	NM_000098.3(CPT2):c.1813G>C (p.Val605Leu)	CPT2 (V605L +1 more)	Single nucleotide variant (missense variant)	Encephalopathy, acute, infection-induced, susceptibility to, 4 +1 more	GPathogenic/Likely pathogenic
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 845241	NM_000098.3(CPT2):c.341-2A>G	CPT2	Single nucleotide variant (splice acceptor variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 844640	NM_000098.3(CPT2):c.1312A>G (p.Met438Val)	CPT2 (M438V)	Single nucleotide variant (missense variant)	Carnitine palmitoyl transferase II deficiency, severe infantile form +5 more	GUncertain significance
Select item 837370	NM_000098.3(CPT2):c.1932dup (p.Glu645fs)	CPT2 (E622fs +1 more)	Duplication (frameshift variant)	Encephalopathy, acute, infection-induced, susceptibility to, 4 +2 more	GPathogenic/Likely pathogenic
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 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 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 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 706010	NM_000098.3(CPT2):c.201A>C (p.Ala67=)	CPT2	Single nucleotide variant (synonymous variant)	Carnitine palmitoyl transferase II deficiency, myopathic form +5 more	GLikely benign
Select item 682519	NM_000098.3(CPT2):c.606T>C (p.Tyr202=)	CPT2	Single nucleotide variant (synonymous variant)	Carnitine palmitoyltransferase II deficiency +5 more	GLikely benign
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 655118	NM_000098.3(CPT2):c.1897G>T (p.Ala633Ser)	CPT2 (A610S +1 more)	Single nucleotide variant (missense variant)	Encephalopathy, acute, infection-induced, susceptibility to, 4 +4 more	GUncertain significance
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 651934	NM_000098.3(CPT2):c.339G>A (p.Ser113=)	CPT2	Single nucleotide variant (synonymous variant)	Carnitine palmitoyltransferase II deficiency +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 638340	NM_000098.3(CPT2):c.499C>T (p.Arg167Trp)	CPT2 (R167W)	Single nucleotide variant (missense variant)	Carnitine palmitoyltransferase II deficiency +4 more	GUncertain significance
Select item 633182	NM_000098.3(CPT2):c.1569_1570del (p.His523fs)	CPT2 (H523fs)	Microsatellite (frameshift variant)	Encephalopathy, acute, infection-induced, susceptibility to, 4 +3 more	GPathogenic/Likely pathogenic
Select item 623327	NM_000098.3(CPT2):c.1892G>A (p.Arg631His)	CPT2 (R631H +1 more)	Single nucleotide variant (missense variant)	Carnitine palmitoyltransferase II deficiency +5 more	GUncertain significance
Select item 617572	NM_000098.3(CPT2):c.1323_1326del (p.Thr442fs)	CPT2 (T442fs)	Deletion (frameshift variant)	Encephalopathy, acute, infection-induced, susceptibility to, 4 +1 more	GLikely pathogenic
Select item 585724	NM_000098.3(CPT2):c.130C>T (p.His44Tyr)	CPT2, LOC129930561 (H44Y)	Single nucleotide variant (missense variant)	Carnitine palmitoyltransferase II deficiency +6 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 580891	NM_000098.3(CPT2):c.1049G>A (p.Arg350His)	CPT2 (R350H)	Single nucleotide variant (missense variant)	not provided +5 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

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