"Revvity Omics, Revvity"[submitter] AND "CPT2"[gene] - ClinVar

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Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 2688863	NM_000098.3(CPT2):c.284T>C (p.Leu95Pro)	CPT2 (L95P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 8953	NM_000098.3(CPT2):c.338C>T (p.Ser113Leu)	CPT2 (S113L)	Single nucleotide variant (missense variant)	Carnitine palmitoyl transferase II deficiency, neonatal form +7 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 8968	NM_000098.3(CPT2):c.359A>G (p.Tyr120Cys)	CPT2 (Y120C)	Single nucleotide variant (missense variant)	Carnitine palmitoyl transferase II deficiency, neonatal form +5 more	GPathogenic/Likely pathogenic
Select item 447219	NM_000098.3(CPT2):c.365C>T (p.Ser122Phe)	CPT2 (S122F)	Single nucleotide variant (missense variant)	Carnitine palmitoyltransferase II deficiency +2 more	GConflicting classifications of pathogenicity
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 374947	NM_000098.3(CPT2):c.448A>G (p.Thr150Ala)	CPT2 (T150A)	Single nucleotide variant (missense variant)	Carnitine palmitoyltransferase II deficiency +2 more	GConflicting classifications of pathogenicity
Select item 287483	NM_000098.3(CPT2):c.577C>T (p.Arg193Cys)	CPT2 (R193C)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
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 2688862	NM_000098.3(CPT2):c.631C>T (p.Pro211Ser)	CPT2 (P211S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 645013	NM_000098.3(CPT2):c.692G>A (p.Arg231Gln)	CPT2 (R231Q)	Single nucleotide variant (missense variant)	Carnitine palmitoyltransferase II deficiency +1 more	GConflicting classifications of pathogenicity
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 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 2440533	NM_000098.3(CPT2):c.878G>T (p.Ser293Ile)	CPT2 (S293I)	Single nucleotide variant (missense variant)	Carnitine palmitoyltransferase II deficiency +1 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 203662	NM_000098.3(CPT2):c.1048C>T (p.Arg350Cys)	CPT2 (R350C)	Single nucleotide variant (missense variant)	Encephalopathy, acute, infection-induced, susceptibility to, 4 +6 more	GUncertain significance
Select item 1324166	NM_000098.3(CPT2):c.1099_1100del (p.Ala367fs)	CPT2 (A367fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2690578	NM_000098.3(CPT2):c.1122G>A (p.Trp374Ter)	CPT2 (W374*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
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 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 188753	NM_000098.3(CPT2):c.1369A>T (p.Lys457Ter)	CPT2 (K457*)	Single nucleotide variant (nonsense)	Carnitine palmitoyl transferase II deficiency, severe infantile form +6 more	GPathogenic/Likely pathogenic
Select item 2053556	NM_000098.3(CPT2):c.1393G>A (p.Ala465Thr)	CPT2 (A465T)	Single nucleotide variant (missense variant)	not provided +1 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 447218	NM_000098.3(CPT2):c.1438G>A (p.Gly480Arg)	CPT2 (G480R)	Single nucleotide variant (missense variant)	not specified +7 more	GUncertain significance
Select item 529864	NM_000098.3(CPT2):c.1477G>A (p.Ala493Thr)	CPT2 (A493T)	Single nucleotide variant (missense variant)	Carnitine palmitoyl transferase II deficiency, severe infantile form +6 more	GConflicting classifications of pathogenicity
Select item 203663	NM_000098.3(CPT2):c.1511C>T (p.Pro504Leu)	CPT2 (P504L)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 429623	NM_000098.3(CPT2):c.1519G>A (p.Val507Ile)	CPT2 (V507I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
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 166955	NM_000098.3(CPT2):c.1634A>C (p.Glu545Ala)	CPT2 (E545A)	Single nucleotide variant (missense variant +1 more)	Carnitine palmitoyltransferase II deficiency +3 more	GConflicting classifications of pathogenicity
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)	Encephalopathy, acute, infection-induced, susceptibility to, 4 +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 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 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 8952	NM_000098.3(CPT2):c.1891C>T (p.Arg631Cys)	CPT2 (R631C +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GPathogenic

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Items: 39