"Genome-Nilou Lab"[submitter] AND "CPT2"[gene] - ClinVar - NCBI

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	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 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 189042	NM_000098.3(CPT2):c.38del (p.Gly13fs)	CPT2, LOC129930561 (G13fs)	Deletion (frameshift variant)	Carnitine palmitoyltransferase II deficiency +1 more	GPathogenic/Likely pathogenic
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 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 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 555898	NM_000098.3(CPT2):c.62C>A (p.Pro21His)	CPT2, LOC129930561 (P21H)	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 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 555897	NM_000098.3(CPT2):c.99G>C (p.Gln33His)	CPT2, LOC129930561 (Q33H)	Single nucleotide variant (missense variant)	Carnitine palmitoyl transferase II deficiency, neonatal form +4 more	GUncertain significance
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 371697	NM_000098.3(CPT2):c.110_111dup (p.Ser38fs)	CPT2, LOC129930561 (S38fs)	Microsatellite (frameshift variant)	Carnitine palmitoyltransferase II deficiency +5 more	GPathogenic/Likely pathogenic
Select item 1200879	NM_000098.3(CPT2):c.122C>T (p.Pro41Leu)	CPT2, LOC129930561 (P41L)	Single nucleotide variant (missense variant)	Carnitine palmitoyltransferase II deficiency +5 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 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 1177631	NM_000098.3(CPT2):c.152+56C>A	CPT2, LOC129930561	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
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 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 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 706010	NM_000098.3(CPT2):c.201A>C (p.Ala67=)	CPT2	Single nucleotide variant (synonymous variant)	Carnitine palmitoyltransferase II deficiency +5 more	GLikely benign
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 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 460433	NM_000098.3(CPT2):c.236A>C (p.Lys79Thr)	CPT2 (K79T)	Single nucleotide variant (missense variant)	CPT2-related disorder +14 more	GUncertain significance
Select item 137028	NM_000098.3(CPT2):c.302C>T (p.Ala101Val)	CPT2 (A101V)	Single nucleotide variant (missense variant)	Carnitine palmitoyltransferase II deficiency +6 more	GBenign
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 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 513803	NM_000098.3(CPT2):c.340+20G>A	CPT2	Single nucleotide variant (intron 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 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 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 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 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 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 197104	NM_000098.3(CPT2):c.511C>T (p.Leu171=)	CPT2	Single nucleotide variant (synonymous variant)	Carnitine palmitoyltransferase II deficiency +6 more	GBenign
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 550520	NM_000098.3(CPT2):c.520G>T (p.Glu174Ter)	CPT2 (E174*)	Single nucleotide variant (nonsense)	Carnitine palmitoyl transferase II deficiency, severe infantile form +1 more	GPathogenic/Likely pathogenic
Select item 8957	NM_000098.3(CPT2):c.520G>A (p.Glu174Lys)	CPT2 (E174K)	Single nucleotide variant (missense variant)	Carnitine palmitoyltransferase II deficiency +2 more	GPathogenic/Likely pathogenic
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 197105	NM_000098.3(CPT2):c.587C>T (p.Pro196Leu)	CPT2 (P196L)	Single nucleotide variant (missense variant)	Carnitine palmitoyl transferase II deficiency, neonatal form +5 more	GUncertain significance
Select item 297603	NM_000098.3(CPT2):c.588T>C (p.Pro196=)	CPT2	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign/Likely 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 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 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 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 554042	NM_000098.3(CPT2):c.627_630dup (p.Pro211fs)	CPT2 (P211fs)	Duplication (frameshift variant)	Encephalopathy, acute, infection-induced, susceptibility to, 4 +2 more	GPathogenic/Likely pathogenic
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 551107	NM_000098.3(CPT2):c.670del (p.Thr224fs)	CPT2 (T224fs)	Deletion (frameshift variant)	Carnitine palmitoyl transferase II deficiency, severe infantile form +2 more	GPathogenic/Likely pathogenic
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 554639	NM_000098.3(CPT2):c.748_749del (p.Asn250fs)	CPT2 (N250fs)	Deletion (frameshift variant)	Encephalopathy, acute, infection-induced, susceptibility to, 4 +2 more	GPathogenic/Likely pathogenic
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 566911	NM_000098.3(CPT2):c.800C>T (p.Ser267Leu)	CPT2 (S267L)	Single nucleotide variant (missense variant)	Encephalopathy, acute, infection-induced, susceptibility to, 4 +5 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 392128	NM_000098.3(CPT2):c.870C>T (p.Tyr290=)	CPT2	Single nucleotide variant (synonymous variant)	Carnitine palmitoyl transferase II deficiency, neonatal form +5 more	GLikely benign
Select item 511194	NM_000098.3(CPT2):c.876C>T (p.Thr292=)	CPT2	Single nucleotide variant (synonymous variant)	Carnitine palmitoyl transferase II deficiency, neonatal form +5 more	GLikely benign
Select item 529867	NM_000098.3(CPT2):c.877A>G (p.Ser293Gly)	CPT2 (S293G)	Single nucleotide variant (missense variant)	Carnitine palmitoyl transferase II deficiency, severe infantile form +5 more	GConflicting classifications of pathogenicity
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 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 203662	NM_000098.3(CPT2):c.1048C>T (p.Arg350Cys)	CPT2 (R350C)	Single nucleotide variant (missense variant)	not provided +6 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 92428	NM_000098.3(CPT2):c.1055T>G (p.Phe352Cys)	CPT2 (F352C)	Single nucleotide variant (missense variant)	Carnitine palmitoyl transferase II deficiency, neonatal form +6 more	GBenign/Likely 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 92429	NM_000098.3(CPT2):c.1102G>A (p.Val368Ile)	CPT2 (V368I)	Single nucleotide variant (missense variant)	Carnitine palmitoyl transferase II deficiency, neonatal form +4 more	GBenign
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 568495	NM_000098.3(CPT2):c.1228G>A (p.Val410Ile)	CPT2 (V410I)	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 507092	NM_000098.3(CPT2):c.1263T>C (p.Asp421=)	CPT2	Single nucleotide variant (synonymous variant)	Carnitine palmitoyl transferase II deficiency, myopathic form +5 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 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 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 429340	NM_000098.3(CPT2):c.1324dup (p.Thr442fs)	CPT2 (T442fs)	Duplication (frameshift variant)	Carnitine palmitoyltransferase II deficiency +3 more	GPathogenic/Likely pathogenic
Select item 371775	NM_000098.3(CPT2):c.1345delinsTA (p.Gln449Ter)	CPT2 (Q449*)	Indel (nonsense)	Carnitine palmitoyl transferase II deficiency, severe infantile form +3 more	GPathogenic/Likely pathogenic
Select item 371729	NM_000098.3(CPT2):c.1345C>T (p.Gln449Ter)	CPT2 (Q449*)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 188991	NM_000098.3(CPT2):c.1348A>T (p.Arg450Ter)	CPT2 (R450*)	Single nucleotide variant (nonsense)	Carnitine palmitoyltransferase II deficiency +1 more	GPathogenic/Likely pathogenic
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 550475	NM_000098.3(CPT2):c.1404G>T (p.Gln468His)	CPT2 (Q468H)	Single nucleotide variant (missense variant)	Carnitine palmitoyl transferase II deficiency, neonatal form +4 more	GUncertain significance

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