"ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 137028	NM_000098.3(CPT2):c.302C>T (p.Ala101Val)	CPT2 (A101V)	Single nucleotide variant (missense variant)	not specified +6 more	GBenign
Select item 8953	NM_000098.3(CPT2):c.338C>T (p.Ser113Leu)	CPT2 (S113L)	Single nucleotide variant (missense variant)	Encephalopathy, acute, infection-induced, susceptibility to, 4 +7 more	GPathogenic/Likely pathogenic
Select item 203666	NM_000098.3(CPT2):c.353A>G (p.Asp118Gly)	CPT2 (D118G)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
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 8964	NM_000098.3(CPT2):c.680C>T (p.Pro227Leu)	CPT2 (P227L)	Single nucleotide variant (missense variant)	Encephalopathy, acute, infection-induced, susceptibility to, 4 +6 more	GPathogenic/Likely pathogenic
Select item 376799	NM_000098.3(CPT2):c.1025T>C (p.Met342Thr)	CPT2 (M342T)	Single nucleotide variant (missense variant)	Carnitine palmitoyl transferase II deficiency, neonatal form +8 more	GConflicting classifications of pathogenicity
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 92428	NM_000098.3(CPT2):c.1055T>G (p.Phe352Cys)	CPT2 (F352C)	Single nucleotide variant (missense variant)	not provided +7 more	GBenign/Likely benign
Select item 92429	NM_000098.3(CPT2):c.1102G>A (p.Val368Ile)	CPT2 (V368I)	Single nucleotide variant (missense variant)	not specified +5 more	GBenign
Select item 297609	NM_000098.3(CPT2):c.1578T>C (p.Gly526=)	CPT2	Single nucleotide variant (synonymous variant +1 more)	not specified +6 more	GBenign/Likely benign
Select item 203657	NM_000098.3(CPT2):c.1598T>C (p.Val533Ala)	CPT2 (V533A)	Single nucleotide variant (missense variant +1 more)	Carnitine palmitoyltransferase II deficiency +3 more	GConflicting classifications of pathogenicity
Select item 460425	NM_000098.3(CPT2):c.1602G>A (p.Glu534=)	CPT2	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 203664	NM_000098.3(CPT2):c.1763C>G (p.Ser588Cys)	CPT2 (S588C +1 more)	Single nucleotide variant (missense variant)	not provided +8 more	GBenign/Likely benign
Select item 92432	NM_000098.3(CPT2):c.1767G>A (p.Thr589=)	CPT2	Single nucleotide variant (synonymous variant)	Encephalopathy, acute, infection-induced, susceptibility to, 4 +6 more	GBenign/Likely benign
Select item 92433	NM_000098.3(CPT2):c.1939A>G (p.Met647Val)	CPT2 (M647V +1 more)	Single nucleotide variant (missense variant)	Carnitine palmitoyl transferase II deficiency, neonatal form +4 more	GBenign