CPT2[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1189322	NC_000001.11:g.53196246C>G	CPT2	Single nucleotide variant	not provided	GLikely benign
Select item 1236333	NC_000001.11:g.53196294G>A	CPT2	Single nucleotide variant	not provided	GBenign
Select item 297591	NM_000098.2(CPT2):c.-477C>T	CPT2	Single nucleotide variant	Carnitine palmitoyltransferase II deficiency	GLikely benign
Select item 297592	NM_000098.2(CPT2):c.-461T>C	CPT2	Single nucleotide variant	Carnitine palmitoyltransferase II deficiency	GUncertain significance
Select item 297593	NM_000098.2(CPT2):c.-285C>A	CPT2	Single nucleotide variant	Carnitine palmitoyltransferase II deficiency	GUncertain significance
Select item 297594	NM_000098.2(CPT2):c.-282C>T	CPT2	Single nucleotide variant	Encephalopathy, acute, infection-induced, susceptibility to, 4 +4 more	GUncertain significance
Select item 297596	NM_000098.2(CPT2):c.-242G>C	CPT2	Single nucleotide variant	Carnitine palmitoyltransferase II deficiency	GUncertain significance
Select item 297595	NM_000098.2(CPT2):c.-242G>A	CPT2	Single nucleotide variant	Carnitine palmitoyltransferase II deficiency	GLikely benign
Select item 297597	NM_000098.2(CPT2):c.-229G>T	CPT2	Single nucleotide variant	Carnitine palmitoyltransferase II deficiency	GUncertain significance
Select item 297598	NM_000098.2(CPT2):c.-216A>G	CPT2	Single nucleotide variant	Carnitine palmitoyltransferase II deficiency	GUncertain significance
Select item 1202052	NM_000098.3(CPT2):c.152+182C>T	CPT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 683619	NM_000098.3(CPT2):c.153-283T>C	CPT2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 460422	NC_000001.11:g.(?_53200699)_(53200819_?)del	CPT2	Deletion	Carnitine palmitoyltransferase II deficiency	GUncertain significance
Select item 2787676	NM_000098.3(CPT2):c.153-11T>C	CPT2	Single nucleotide variant (intron variant)	Carnitine palmitoyltransferase II deficiency	GLikely benign
Select item 2026376	NM_000098.3(CPT2):c.153-5C>T	CPT2	Single nucleotide variant (intron variant)	Carnitine palmitoyltransferase II deficiency	GLikely benign
Select item 1618754	NM_000098.3(CPT2):c.153-4C>G	CPT2	Single nucleotide variant (intron variant)	Carnitine palmitoyltransferase II deficiency	GLikely benign
Select item 2005112	NM_000098.3(CPT2):c.155T>C (p.Leu52Pro)	CPT2 (L52P)	Single nucleotide variant (missense variant)	Carnitine palmitoyltransferase II deficiency	GUncertain significance
Select item 1105136	NM_000098.3(CPT2):c.159T>C (p.Pro53=)	CPT2	Single nucleotide variant (synonymous variant)	Carnitine palmitoyltransferase II deficiency	GLikely benign
Select item 2776660	NM_000098.3(CPT2):c.163C>T (p.Pro55Ser)	CPT2 (P55S)	Single nucleotide variant (missense variant)	Carnitine palmitoyltransferase II deficiency	GUncertain significance
Select item 1072348	NM_000098.3(CPT2):c.164_165del (p.Pro55fs)	CPT2 (P55fs)	Deletion (frameshift variant)	Carnitine palmitoyltransferase II deficiency	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 2810028	NM_000098.3(CPT2):c.165C>A (p.Pro55=)	CPT2	Single nucleotide variant (synonymous variant)	Carnitine palmitoyltransferase II deficiency	GLikely benign
Select item 1502890	NM_000098.3(CPT2):c.170T>C (p.Leu57Pro)	CPT2 (L57P)	Single nucleotide variant (missense variant)	Carnitine palmitoyltransferase II deficiency	GUncertain significance
Select item 2280150	NM_000098.3(CPT2):c.172G>C (p.Glu58Gln)	CPT2 (E58Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2055620	NM_000098.3(CPT2):c.174A>G (p.Glu58=)	CPT2	Single nucleotide variant (synonymous variant)	Carnitine palmitoyltransferase II deficiency	GLikely benign
Select item 1649776	NM_000098.3(CPT2):c.177C>T (p.Asp59=)	CPT2	Single nucleotide variant (synonymous variant)	Carnitine palmitoyltransferase II deficiency	GLikely benign
Select item 2797795	NM_000098.3(CPT2):c.180C>T (p.Thr60=)	CPT2	Single nucleotide variant (synonymous variant)	Carnitine palmitoyltransferase II deficiency	GLikely benign
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 1051185	NM_000098.3(CPT2):c.188G>T (p.Arg63Ile)	CPT2 (R63I)	Single nucleotide variant (missense variant)	Carnitine palmitoyltransferase II deficiency	GPathogenic
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 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 2169951	NM_000098.3(CPT2):c.196A>C (p.Ser66Arg)	CPT2 (S66R)	Single nucleotide variant (missense variant)	Carnitine palmitoyltransferase II deficiency	GUncertain significance
Select item 1990224	NM_000098.3(CPT2):c.196A>G (p.Ser66Gly)	CPT2 (S66G)	Single nucleotide variant (missense variant)	Carnitine palmitoyltransferase II deficiency	GUncertain significance
Select item 851878	NM_000098.3(CPT2):c.200C>G (p.Ala67Gly)	CPT2 (A67G)	Single nucleotide variant (missense variant)	Carnitine palmitoyl transferase II deficiency, severe infantile form +3 more	GLikely pathogenic
Select item 706010	NM_000098.3(CPT2):c.201A>C (p.Ala67=)	CPT2	Single nucleotide variant (synonymous variant)	Carnitine palmitoyl transferase II deficiency, severe infantile form +6 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 863864	NM_000098.3(CPT2):c.204del (p.Lys69fs)	CPT2 (K69fs)	Deletion (frameshift variant)	Carnitine palmitoyltransferase II deficiency	GPathogenic
Select item 798913	NM_000098.3(CPT2):c.204G>A (p.Gln68=)	CPT2	Single nucleotide variant (synonymous variant)	Carnitine palmitoyltransferase II deficiency	GLikely benign
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 2975046	NM_000098.3(CPT2):c.213C>G (p.Leu71=)	CPT2	Single nucleotide variant (synonymous variant)	Carnitine palmitoyltransferase II deficiency	GLikely benign
Select item 2760093	NM_000098.3(CPT2):c.215T>A (p.Leu72Ter)	CPT2 (L72*)	Single nucleotide variant (nonsense)	Carnitine palmitoyltransferase II deficiency	GPathogenic
Select item 1136360	NM_000098.3(CPT2):c.218A>G (p.Asn73Ser)	CPT2 (N73S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 2821490	NM_000098.3(CPT2):c.233+7A>G	CPT2	Single nucleotide variant (intron variant)	Carnitine palmitoyltransferase II deficiency	GLikely benign
Select item 2786071	NM_000098.3(CPT2):c.233+9T>C	CPT2	Single nucleotide variant (intron variant)	Carnitine palmitoyltransferase II deficiency	GLikely benign
Select item 3000984	NM_000098.3(CPT2):c.233+13A>G	CPT2	Single nucleotide variant (intron variant)	Carnitine palmitoyltransferase II deficiency	GLikely benign
Select item 2822434	NM_000098.3(CPT2):c.233+15C>A	CPT2	Single nucleotide variant (intron variant)	Carnitine palmitoyltransferase II deficiency	GLikely benign
Select item 2738606	NM_000098.3(CPT2):c.233+17T>C	CPT2	Single nucleotide variant (intron variant)	Carnitine palmitoyltransferase II deficiency	GLikely benign
Select item 2762352	NM_000098.3(CPT2):c.233+18T>G	CPT2	Single nucleotide variant (intron variant)	Carnitine palmitoyltransferase II deficiency	GLikely benign
Select item 2039335	NM_000098.3(CPT2):c.233+20G>A	CPT2	Single nucleotide variant (intron variant)	Carnitine palmitoyltransferase II deficiency	GLikely benign
Select item 2995252	NM_000098.3(CPT2):c.234-21_234-17del	CPT2	Deletion (intron variant)	Carnitine palmitoyltransferase II deficiency	GLikely benign
Select item 2844533	NM_000098.3(CPT2):c.234-16T>G	CPT2	Single nucleotide variant (intron variant)	Carnitine palmitoyltransferase II deficiency	GLikely benign
Select item 2829303	NM_000098.3(CPT2):c.234-13T>A	CPT2	Single nucleotide variant (intron variant)	Carnitine palmitoyltransferase II deficiency	GLikely benign
Select item 1627906	NM_000098.3(CPT2):c.234-7G>C	CPT2	Single nucleotide variant (intron variant)	Carnitine palmitoyltransferase II deficiency	GLikely benign
Select item 1560361	NM_000098.3(CPT2):c.234-7G>A	CPT2	Single nucleotide variant (intron variant)	Carnitine palmitoyltransferase II deficiency	GLikely benign
Select item 2693675	NM_000098.3(CPT2):c.234-6T>C	CPT2	Single nucleotide variant (intron variant)	Carnitine palmitoyltransferase II deficiency	GLikely benign
Select item 8962	NM_000098.3(CPT2):c.234-1G>A	CPT2	Single nucleotide variant (splice acceptor variant)	Carnitine palmitoyl transferase II deficiency, neonatal form	GPathogenic
Select item 1387016	NM_000098.3(CPT2):c.238del (p.Thr80fs)	CPT2 (T80fs)	Deletion (frameshift variant)	Carnitine palmitoyltransferase II deficiency	GPathogenic
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 2103986	NM_000098.3(CPT2):c.240A>T (p.Thr80=)	CPT2	Single nucleotide variant (synonymous variant)	Carnitine palmitoyltransferase II deficiency	GLikely benign
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 1375125	NM_000098.3(CPT2):c.242A>T (p.Glu81Val)	CPT2 (E81V)	Single nucleotide variant (missense variant)	Carnitine palmitoyltransferase II deficiency	GUncertain significance
Select item 640019	NM_000098.3(CPT2):c.244C>G (p.Gln82Glu)	CPT2 (Q82E)	Single nucleotide variant (missense variant)	Carnitine palmitoyltransferase II deficiency	GUncertain significance
Select item 731310	NM_000098.3(CPT2):c.246A>G (p.Gln82=)	CPT2	Single nucleotide variant (synonymous variant)	Carnitine palmitoyltransferase II deficiency	GLikely benign
Select item 1603696	NM_000098.3(CPT2):c.249T>C (p.Phe83=)	CPT2	Single nucleotide variant (synonymous variant)	Carnitine palmitoyltransferase II deficiency	GLikely benign
Select item 974480	NM_000098.3(CPT2):c.251G>A (p.Cys84Tyr)	CPT2 (C84Y)	Single nucleotide variant (missense variant)	Carnitine palmitoyl transferase II deficiency, neonatal form	GLikely pathogenic
Select item 1379138	NM_000098.3(CPT2):c.253A>C (p.Lys85Gln)	CPT2 (K85Q)	Single nucleotide variant (missense variant)	Carnitine palmitoyltransferase II deficiency	GUncertain significance
Select item 856230	NM_000098.3(CPT2):c.256_257del (p.Ser86fs)	CPT2 (S86fs)	Microsatellite (frameshift variant)	Carnitine palmitoyltransferase II deficiency +1 more	GPathogenic
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 1099418	NM_000098.3(CPT2):c.267T>C (p.Asn89=)	CPT2	Single nucleotide variant (synonymous variant)	Carnitine palmitoyltransferase II deficiency	GLikely benign
Select item 2096191	NM_000098.3(CPT2):c.268G>A (p.Gly90Arg)	CPT2 (G90R)	Single nucleotide variant (missense variant)	Carnitine palmitoyltransferase II deficiency	GUncertain significance
Select item 1592758	NM_000098.3(CPT2):c.270G>A (p.Gly90=)	CPT2	Single nucleotide variant (synonymous variant)	Carnitine palmitoyltransferase II deficiency	GLikely benign
Select item 1092888	NM_000098.3(CPT2):c.283C>T (p.Leu95=)	CPT2	Single nucleotide variant (synonymous variant)	Carnitine palmitoyltransferase II deficiency	GLikely benign
Select item 2688863	NM_000098.3(CPT2):c.284T>C (p.Leu95Pro)	CPT2 (L95P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2834008	NM_000098.3(CPT2):c.285G>T (p.Leu95=)	CPT2	Single nucleotide variant (synonymous variant)	Carnitine palmitoyltransferase II deficiency	GLikely benign
Select item 2975767	NM_000098.3(CPT2):c.298del (p.Val100fs)	CPT2 (V100fs)	Deletion (frameshift variant)	Carnitine palmitoyltransferase II deficiency	GPathogenic
Select item 2857682	NM_000098.3(CPT2):c.297G>C (p.Leu99=)	CPT2	Single nucleotide variant (synonymous variant)	Carnitine palmitoyltransferase II deficiency	GLikely benign
Select item 553015	NM_000098.3(CPT2):c.302del (p.Ala101fs)	CPT2 (A101fs)	Deletion (frameshift variant)	Carnitine palmitoyl transferase II deficiency, severe infantile form	GLikely pathogenic
Select item 137028	NM_000098.3(CPT2):c.302C>T (p.Ala101Val)	CPT2 (A101V)	Single nucleotide variant (missense variant)	Encephalopathy, acute, infection-induced, susceptibility to, 4 +6 more	GBenign
Select item 1432312	NM_000098.3(CPT2):c.314A>G (p.Gln105Arg)	CPT2 (Q105R)	Single nucleotide variant (missense variant)	Carnitine palmitoyltransferase II deficiency	GUncertain significance
Select item 1373083	NM_000098.3(CPT2):c.320_321del (p.Lys107fs)	CPT2 (K107fs)	Deletion (frameshift variant)	Carnitine palmitoyltransferase II deficiency	GPathogenic
Select item 704618	NM_000098.3(CPT2):c.321A>G (p.Lys107=)	CPT2	Single nucleotide variant (synonymous variant)	Carnitine palmitoyltransferase II deficiency	GConflicting classifications of pathogenicity
Select item 1642030	NM_000098.3(CPT2):c.324T>C (p.His108=)	CPT2	Single nucleotide variant (synonymous variant)	Carnitine palmitoyltransferase II deficiency	GLikely benign
Select item 1090164	NM_000098.3(CPT2):c.333C>T (p.Tyr111=)	CPT2	Single nucleotide variant (synonymous variant)	Carnitine palmitoyltransferase II deficiency	GLikely benign
Select item 8953	NM_000098.3(CPT2):c.338C>T (p.Ser113Leu)	CPT2 (S113L)	Single nucleotide variant (missense variant)	not provided +7 more	GPathogenic/Likely pathogenic
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 2632349	NM_000098.3(CPT2):c.340+1G>C	CPT2	Single nucleotide variant (splice donor variant)	CPT2-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 1477936	NM_000098.3(CPT2):c.340+1G>A	CPT2	Single nucleotide variant (splice donor variant)	Carnitine palmitoyltransferase II deficiency	GLikely pathogenic
Select item 1473351	NM_000098.3(CPT2):c.340+5_340+14del	CPT2	Deletion (intron variant)	Carnitine palmitoyltransferase II deficiency	GUncertain significance
Select item 2202761	NM_000098.3(CPT2):c.340+5G>A	CPT2	Single nucleotide variant (intron variant)	Carnitine palmitoyltransferase II deficiency	GLikely pathogenic
Select item 1010976	NM_000098.3(CPT2):c.340+6T>C	CPT2	Single nucleotide variant (intron variant)	Carnitine palmitoyltransferase II deficiency	GUncertain significance
Select item 796973	NM_000098.3(CPT2):c.340+7A>G	CPT2	Single nucleotide variant (intron variant)	Carnitine palmitoyltransferase II deficiency	GLikely benign
Select item 1602475	NM_000098.3(CPT2):c.340+8G>A	CPT2	Single nucleotide variant (intron variant)	Carnitine palmitoyltransferase II deficiency	GLikely benign
Select item 2811687	NM_000098.3(CPT2):c.340+9G>T	CPT2	Single nucleotide variant (intron variant)	Carnitine palmitoyltransferase II deficiency	GLikely benign
Select item 529869	NM_000098.3(CPT2):c.340+9G>C	CPT2	Single nucleotide variant (intron variant)	Carnitine palmitoyltransferase II deficiency	GLikely benign
Select item 972093	NM_000098.3(CPT2):c.340+10C>G	CPT2	Single nucleotide variant (intron variant)	Carnitine palmitoyltransferase II deficiency	GLikely benign
Select item 2695063	NM_000098.3(CPT2):c.340+16dup	CPT2	Duplication (intron variant)	Carnitine palmitoyltransferase II deficiency	GLikely benign
Select item 2771628	NM_000098.3(CPT2):c.340+17G>A	CPT2	Single nucleotide variant (intron variant)	Carnitine palmitoyltransferase II deficiency	GLikely benign
Select item 1539412	NM_000098.3(CPT2):c.340+18T>C	CPT2	Single nucleotide variant (intron variant)	Carnitine palmitoyltransferase II deficiency	GLikely benign
Select item 513802	NM_000098.3(CPT2):c.340+18T>A	CPT2	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign

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