ClinVar for MedGen (Select 322211) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2141218	NM_000098.3(CPT2):c.1430G>A (p.Arg477Gln)	CPT2 (R477Q)	Single nucleotide variant (missense variant)	Encephalopathy, acute, infection-induced, susceptibility to, 4 +5 more	GUncertain significance
Select item 2037412	NM_000098.3(CPT2):c.1523A>G (p.Tyr508Cys)	CPT2 (Y508C)	Single nucleotide variant (missense variant)	Carnitine palmitoyl transferase II deficiency, neonatal form +5 more	GUncertain significance
Select item 1726778	NM_000098.3(CPT2):c.149_150del (p.Pro50fs)	CPT2, LOC129930561 (P50fs)	Deletion (frameshift variant)	Carnitine palmitoyl transferase II deficiency, severe infantile form +2 more	GLikely pathogenic
Select item 1724784	NM_000098.3(CPT2):c.187A>T (p.Arg63Ter)	CPT2 (R63*)	Single nucleotide variant (nonsense)	Carnitine palmitoyl transferase II deficiency, neonatal form +2 more	GLikely pathogenic
Select item 1724184	NM_000098.3(CPT2):c.150del (p.Arg51fs)	CPT2, LOC129930561 (R51fs)	Deletion (frameshift variant)	Carnitine palmitoyl transferase II deficiency, severe infantile form +2 more	GLikely pathogenic
Select item 1708347	NM_000098.3(CPT2):c.1769G>A (p.Ser590Asn)	CPT2 (S567N +1 more)	Single nucleotide variant (missense variant)	Hypoammonemia +5 more	GUncertain significance
Select item 1697214	NM_000098.3(CPT2):c.1711C>A (p.Pro571Thr)	CPT2 (P548T +1 more)	Single nucleotide variant (missense variant)	Carnitine palmitoyl transferase II deficiency, severe infantile form	GUncertain significance
Select item 1669628	NM_000098.3(CPT2):c.15G>C (p.Leu5=)	CPT2, LOC129930561	Single nucleotide variant (synonymous variant)	Carnitine palmitoyl transferase II deficiency, severe infantile form +4 more	GLikely benign
Select item 1625294	NM_000098.3(CPT2):c.1645+14G>T	CPT2	Single nucleotide variant (intron 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 palmitoyltransferase II deficiency +4 more	GLikely benign
Select item 1486923	NM_000098.3(CPT2):c.520G>C (p.Glu174Gln)	CPT2 (E174Q)	Single nucleotide variant (missense variant)	Carnitine palmitoyl transferase II deficiency, neonatal form +4 more	GUncertain significance
Select item 1448133	NM_000098.3(CPT2):c.1376A>T (p.Gln459Leu)	CPT2 (Q459L)	Single nucleotide variant (missense variant)	Carnitine palmitoyl transferase II deficiency, severe infantile form +4 more	GUncertain significance
Select item 1423479	NM_000098.3(CPT2):c.1124G>T (p.Gly375Val)	CPT2 (G375V)	Single nucleotide variant (missense variant)	Carnitine palmitoyl transferase II deficiency, neonatal form +5 more	GUncertain significance
Select item 1407113	NM_000098.3(CPT2):c.1535G>A (p.Cys512Tyr)	CPT2 (C512Y)	Single nucleotide variant (missense variant)	Carnitine palmitoyl transferase II deficiency, myopathic form +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, neonatal form +4 more	GUncertain significance
Select item 1402823	NM_000098.3(CPT2):c.1822G>C (p.Asp608His)	CPT2 (D585H +1 more)	Single nucleotide variant (missense variant)	not provided +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)	Carnitine palmitoyltransferase II deficiency +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 palmitoyltransferase II deficiency +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)	CPT2-related condition +6 more	GUncertain significance
Select item 1322159	NM_000098.3(CPT2):c.202C>T (p.Gln68Ter)	CPT2 (Q68*)	Single nucleotide variant (nonsense)	Carnitine palmitoyl transferase II deficiency, severe infantile form +2 more	GPathogenic
Select item 1310133	NM_000098.3(CPT2):c.1048C>G (p.Arg350Gly)	CPT2 (R350G)	Single nucleotide variant (missense variant)	Carnitine palmitoyltransferase II deficiency +5 more	GUncertain significance
Select item 1210388	NM_000098.3(CPT2):c.38_39del (p.Gly13fs)	CPT2, LOC129930561 (G13fs)	Deletion (frameshift variant)	Carnitine palmitoyl transferase II deficiency, severe infantile form	GLikely pathogenic
Select item 1200879	NM_000098.3(CPT2):c.122C>T (p.Pro41Leu)	CPT2, LOC129930561 (P41L)	Single nucleotide variant (missense variant)	Carnitine palmitoyl transferase II deficiency, severe infantile form +5 more	GUncertain significance
Select item 1177631	NM_000098.3(CPT2):c.152+56C>A	CPT2, LOC129930561	Single nucleotide variant (intron variant)	Carnitine palmitoyl transferase II deficiency, severe infantile form +2 more	GBenign
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, myopathic form +5 more	GUncertain significance
Select item 1175199	NM_000098.3(CPT2):c.1749C>A (p.Asn583Lys)	CPT2 (N560K +1 more)	Single nucleotide variant (missense variant)	Carnitine palmitoyl transferase II deficiency, severe infantile form	GUncertain significance
Select item 1147513	NM_000098.3(CPT2):c.222T>C (p.Asp74=)	CPT2	Single nucleotide variant (synonymous variant)	Carnitine palmitoyltransferase II deficiency +4 more	GLikely benign
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 1136068	NM_000098.3(CPT2):c.468T>C (p.Thr156=)	CPT2	Single nucleotide variant (synonymous variant)	Carnitine palmitoyltransferase II deficiency +4 more	GLikely benign
Select item 1106928	NM_000098.3(CPT2):c.1290T>C (p.Ala430=)	CPT2	Single nucleotide variant (synonymous variant)	Carnitine palmitoyl transferase II deficiency, myopathic form +4 more	GLikely benign
Select item 1079247	NM_000098.3(CPT2):c.1080C>T (p.Ile360=)	CPT2	Single nucleotide variant (synonymous variant)	Carnitine palmitoyl transferase II deficiency, severe infantile form +4 more	GLikely benign
Select item 1073763	NM_000098.3(CPT2):c.28_29insAGCAAG (p.Trp10Ter)	CPT2, LOC129930561 (W10*)	Insertion (nonsense)	Carnitine palmitoyltransferase II deficiency +3 more	GPathogenic
Select item 1055686	NM_000098.3(CPT2):c.164C>G (p.Pro55Arg)	CPT2 (P55R)	Single nucleotide variant (missense variant)	Encephalopathy, acute, infection-induced, susceptibility to, 4 +5 more	GUncertain significance
Select item 1046379	NM_000098.3(CPT2):c.623A>G (p.Asn208Ser)	CPT2 (N208S)	Single nucleotide variant (missense variant)	Carnitine palmitoyl transferase II deficiency, severe infantile form +5 more	GUncertain significance
Select item 1034501	NM_000098.3(CPT2):c.152+5G>A	CPT2, LOC129930561	Single nucleotide variant (intron variant)	Carnitine palmitoyl transferase II deficiency, severe infantile form +2 more	GConflicting classifications of pathogenicity
Select item 1026121	NM_000098.3(CPT2):c.53C>T (p.Pro18Leu)	CPT2, LOC129930561 (P18L)	Single nucleotide variant (missense variant)	Carnitine palmitoyltransferase II deficiency +5 more	GUncertain significance
Select item 1020752	NM_000098.3(CPT2):c.1424T>A (p.Phe475Tyr)	CPT2 (F475Y)	Single nucleotide variant (missense variant)	Carnitine palmitoyltransferase II deficiency +4 more	GUncertain significance
Select item 1018610	NM_000098.3(CPT2):c.673C>T (p.Arg225Cys)	CPT2 (R225C)	Single nucleotide variant (missense variant)	not specified +5 more	GUncertain significance
Select item 1016526	NM_000098.3(CPT2):c.1492C>T (p.Arg498Cys)	CPT2 (R498C)	Single nucleotide variant (missense variant)	Carnitine palmitoyltransferase II deficiency +5 more	GUncertain significance
Select item 1002319	NM_000098.3(CPT2):c.1645+7C>T	CPT2	Single nucleotide variant (intron variant)	CPT2-related condition +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)	Carnitine palmitoyltransferase II deficiency +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 palmitoyltransferase II deficiency +4 more	GUncertain significance
Select item 971260	NM_000098.3(CPT2):c.188G>A (p.Arg63Lys)	CPT2 (R63K)	Single nucleotide variant (missense variant)	Carnitine palmitoyltransferase II deficiency +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)	Inborn genetic diseases +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, myopathic 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)	Encephalopathy, acute, infection-induced, susceptibility to, 4 +4 more	GUncertain significance
Select item 941093	NM_000098.3(CPT2):c.1489G>A (p.Gly497Ser)	CPT2 (G497S)	Single nucleotide variant (missense variant)	Encephalopathy, acute, infection-induced, susceptibility to, 4 +4 more	GUncertain significance
Select item 939316	NM_000098.3(CPT2):c.887G>A (p.Arg296Gln)	CPT2 (R296Q)	Single nucleotide variant (missense variant)	Carnitine palmitoyltransferase II deficiency +4 more	GConflicting classifications of pathogenicity
Select item 917934	NM_000098.3(CPT2):c.241_242del (p.Glu81fs)	CPT2 (E81fs)	Deletion (frameshift variant)	Carnitine palmitoyl transferase II deficiency, severe infantile form	GLikely pathogenic
Select item 855620	NM_000098.3(CPT2):c.379G>A (p.Val127Ile)	CPT2 (V127I)	Single nucleotide variant (missense variant)	Carnitine palmitoyl transferase II deficiency, severe infantile form +5 more	GUncertain significance
Select item 853896	NM_000098.3(CPT2):c.1016C>T (p.Ser339Phe)	CPT2 (S339F)	Single nucleotide variant (missense variant)	Carnitine palmitoyl transferase II deficiency, severe infantile form +5 more	GUncertain significance
Select item 853753	NM_000098.3(CPT2):c.1189G>A (p.Val397Ile)	CPT2 (V397I)	Single nucleotide variant (missense variant)	Carnitine palmitoyltransferase II deficiency +6 more	GUncertain significance
Select item 851878	NM_000098.3(CPT2):c.200C>G (p.Ala67Gly)	CPT2 (A67G)	Single nucleotide variant (missense variant)	Carnitine palmitoyltransferase II deficiency +3 more	GLikely 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)	Encephalopathy, acute, infection-induced, susceptibility to, 4 +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, severe infantile 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 800797	NM_000098.3(CPT2):c.416C>T (p.Pro139Leu)	CPT2 (P139L)	Single nucleotide variant (missense variant)	Carnitine palmitoyl transferase II deficiency, severe infantile form	GUncertain significance
Select item 796190	NM_000098.3(CPT2):c.1509C>T (p.Arg503=)	CPT2	Single nucleotide variant (synonymous variant)	Carnitine palmitoyl transferase II deficiency, severe infantile form +4 more	GLikely benign
Select item 767412	NM_000098.3(CPT2):c.846C>T (p.Pro282=)	CPT2	Single nucleotide variant (synonymous variant)	Carnitine palmitoyltransferase II deficiency +2 more	GConflicting classifications of pathogenicity
Select item 740236	NM_000098.3(CPT2):c.103C>T (p.Leu35=)	CPT2, LOC129930561	Single nucleotide variant (synonymous variant)	Carnitine palmitoyl transferase II deficiency, severe infantile form +4 more	GLikely benign
Select item 706010	NM_000098.3(CPT2):c.201A>C (p.Ala67=)	CPT2	Single nucleotide variant (synonymous variant)	Encephalopathy, acute, infection-induced, susceptibility to, 4 +6 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 680257	NM_000098.3(CPT2):c.341-155T>C	CPT2	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 655618	NM_000098.3(CPT2):c.578G>A (p.Arg193His)	CPT2 (R193H)	Single nucleotide variant (missense variant)	Carnitine palmitoyl transferase II deficiency, myopathic form +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)	Carnitine palmitoyl transferase II deficiency, myopathic form +4 more	GUncertain significance
Select item 653761	NM_000098.3(CPT2):c.1666_1667del (p.Leu556fs)	CPT2 (L533fs +1 more)	Deletion (frameshift variant)	Carnitine palmitoyl transferase II deficiency, severe infantile form +5 more	GPathogenic
Select item 651934	NM_000098.3(CPT2):c.339G>A (p.Ser113=)	CPT2	Single nucleotide variant (synonymous variant)	Carnitine palmitoyl transferase II deficiency, severe infantile 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 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)	Carnitine palmitoyl transferase II deficiency, severe infantile form +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 +4 more	GUncertain significance
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)	Carnitine palmitoyltransferase II deficiency +4 more	GUncertain significance
Select item 580891	NM_000098.3(CPT2):c.1049G>A (p.Arg350His)	CPT2 (R350H)	Single nucleotide variant (missense variant)	Carnitine palmitoyltransferase II deficiency +5 more	GUncertain significance
Select item 577988	NM_000098.3(CPT2):c.1429C>T (p.Arg477Trp)	CPT2 (R477W)	Single nucleotide variant (missense variant)	Carnitine palmitoyltransferase II deficiency +4 more	GUncertain significance
Select item 577198	NM_000098.3(CPT2):c.1784del (p.Pro595fs)	CPT2 (P572fs +1 more)	Deletion (frameshift variant)	Carnitine palmitoyltransferase II deficiency +3 more	GPathogenic/Likely pathogenic
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 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 568495	NM_000098.3(CPT2):c.1228G>A (p.Val410Ile)	CPT2 (V410I)	Single nucleotide variant (missense variant)	Carnitine palmitoyl transferase II deficiency, severe infantile form +6 more	GUncertain significance
Select item 566911	NM_000098.3(CPT2):c.800C>T (p.Ser267Leu)	CPT2 (S267L)	Single nucleotide variant (missense variant)	Carnitine palmitoyltransferase II deficiency +5 more	GUncertain significance
Select item 566594	NM_000098.3(CPT2):c.1603T>C (p.Cys535Arg)	CPT2 (C535R)	Single nucleotide variant (missense variant +1 more)	Carnitine palmitoyl transferase II deficiency, myopathic form +4 more	GUncertain significance
Select item 558286	NM_000098.3(CPT2):c.1046_1047del (p.Asn349fs)	CPT2 (N349fs)	Deletion (frameshift variant)	Carnitine palmitoyl transferase II deficiency, severe infantile form	GLikely pathogenic
Select item 558056	NM_000098.3(CPT2):c.989dup (p.Ile332fs)	CPT2 (I332fs)	Duplication (frameshift variant)	Encephalopathy, acute, infection-induced, susceptibility to, 4 +4 more	GPathogenic/Likely pathogenic
Select item 557509	NM_000098.3(CPT2):c.606T>G (p.Tyr202Ter)	CPT2 (Y202*)	Single nucleotide variant (nonsense)	Carnitine palmitoyl transferase II deficiency, severe infantile form	GLikely pathogenic
Select item 557352	NM_000098.3(CPT2):c.1973_1975del (p.Ser658_Ter659delinsLys)	CPT2	Deletion (stop lost)	Carnitine palmitoyl transferase II deficiency, severe infantile form	GUncertain significance
Select item 557340	NM_000098.3(CPT2):c.1929del (p.Ala643_Leu644insTer)	CPT2	Deletion (frameshift variant)	Carnitine palmitoyltransferase II deficiency +2 more	GPathogenic/Likely pathogenic
Select item 557272	NM_000098.3(CPT2):c.1021_1024delinsTTG (p.Asn341fs)	CPT2 (N341fs)	Indel (frameshift variant)	Carnitine palmitoyl transferase II deficiency, severe infantile form	GLikely pathogenic
Select item 557241	NM_000098.3(CPT2):c.1933dup (p.Glu645fs)	CPT2 (E622fs +1 more)	Duplication (frameshift variant)	Carnitine palmitoyl transferase II deficiency, severe infantile form	GLikely pathogenic
Select item 557080	NM_000098.3(CPT2):c.1767del (p.Ser590fs)	CPT2 (S590fs +1 more)	Deletion (frameshift variant)	Carnitine palmitoyl transferase II deficiency, severe infantile form +1 more	GPathogenic/Likely pathogenic
Select item 556806	NM_000098.3(CPT2):c.37_39del (p.Gly13del)	CPT2, LOC129930561 (G13del)	Deletion (inframe_deletion)	Carnitine palmitoyltransferase II deficiency +4 more	GUncertain significance
Select item 556730	NM_000098.3(CPT2):c.1563del (p.Arg522fs)	CPT2 (R522fs)	Deletion (frameshift variant)	Carnitine palmitoyl transferase II deficiency, severe infantile form	GLikely pathogenic
Select item 556044	NM_000098.3(CPT2):c.102C>G (p.Tyr34Ter)	CPT2, LOC129930561 (Y34*)	Single nucleotide variant (nonsense)	Carnitine palmitoyl transferase II deficiency, severe infantile form	GLikely pathogenic
Select item 555964	NM_000098.3(CPT2):c.879_880del (p.Ser293fs)	CPT2 (S293fs)	Deletion (frameshift variant)	Carnitine palmitoyl transferase II deficiency, severe infantile form	GLikely pathogenic
Select item 555898	NM_000098.3(CPT2):c.62C>A (p.Pro21His)	CPT2, LOC129930561 (P21H)	Single nucleotide variant (missense variant)	Encephalopathy, acute, infection-induced, susceptibility to, 4 +4 more	GUncertain significance
Select item 555897	NM_000098.3(CPT2):c.99G>C (p.Gln33His)	CPT2, LOC129930561 (Q33H)	Single nucleotide variant (missense variant)	Encephalopathy, acute, infection-induced, susceptibility to, 4 +4 more	GUncertain significance

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