"Athena Diagnostics"[submitter] AND "CPT2"[gene] - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 447219	NM_000098.3(CPT2):c.365C>T (p.Ser122Phe)	CPT2 (S122F)	Single nucleotide variant (missense variant)	not provided +2 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 447220	NM_000098.3(CPT2):c.757A>G (p.Ile253Val)	CPT2 (I253V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 447221	NM_000098.3(CPT2):c.932A>G (p.Asn311Ser)	CPT2 (N311S)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
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 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 385445	NM_000098.3(CPT2):c.1422C>A (p.Ala474=)	CPT2	Single nucleotide variant (synonymous variant)	Carnitine palmitoyltransferase II deficiency +2 more	GConflicting classifications of pathogenicity
Select item 523331	NM_000098.3(CPT2):c.1436A>T (p.Tyr479Phe)	CPT2 (Y479F)	Single nucleotide variant (missense variant)	Carnitine palmitoyltransferase II deficiency +10 more	GConflicting classifications of pathogenicity
Select item 447218	NM_000098.3(CPT2):c.1438G>A (p.Gly480Arg)	CPT2 (G480R)	Single nucleotide variant (missense variant)	Encephalopathy, acute, infection-induced, susceptibility to, 4 +7 more	GUncertain significance
Select item 529861	NM_000098.3(CPT2):c.1448T>C (p.Val483Ala)	CPT2 (V483A)	Single nucleotide variant (missense variant)	Carnitine palmitoyl transferase II deficiency, severe infantile form +6 more	GUncertain significance
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 +2 more	GConflicting classifications of pathogenicity