"Counsyl"[submitter] AND "LOC129930561"[gene] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 371757	NM_000098.3(CPT2):c.54_72dup (p.Leu25fs)	CPT2, LOC129930561 (L25fs)	Duplication (frameshift variant)	Carnitine palmitoyl transferase II deficiency, neonatal form +2 more	GLikely pathogenic
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 555589	NM_000098.3(CPT2):c.72_97del (p.Leu25fs)	CPT2, LOC129930561 (L25fs)	Deletion (frameshift variant)	Carnitine palmitoyl transferase II deficiency, severe infantile form	GLikely pathogenic
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 371733	NM_000098.3(CPT2):c.95del (p.Gly32fs)	CPT2, LOC129930561 (G32fs)	Deletion (frameshift variant)	Carnitine palmitoyl transferase II deficiency, myopathic form +2 more	GLikely 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 556044	NM_000098.3(CPT2):c.102C>G (p.Tyr34Ter)	CPT2, LOC129930561 (Y34*)	Single nucleotide variant (nonsense)	Carnitine palmitoyl transferase II deficiency, severe infantile form	GLikely pathogenic
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 8954	NM_000098.3(CPT2):c.149C>A (p.Pro50His)	CPT2, LOC129930561 (P50H)	Single nucleotide variant (missense variant)	Encephalopathy, acute, infection-induced, susceptibility to, 4 +13 more	GPathogenic