"Baylor Genetics"[submitter] AND "LOC129930561"[gene] - ClinVar - NCBI

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Items: 8

	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 palmitoyl transferase II deficiency, severe infantile form +3 more	GPathogenic
Select item 3241204	NM_000098.3(CPT2):c.29G>A (p.Trp10Ter)	CPT2, LOC129930561 (W10*)	Single nucleotide variant (nonsense)	Encephalopathy, acute, infection-induced, susceptibility to, 4	GLikely pathogenic
Select item 2680938	NM_000098.3(CPT2):c.63dup (p.Ser22fs)	CPT2, LOC129930561 (S22fs)	Duplication (frameshift variant)	Encephalopathy, acute, infection-induced, susceptibility to, 4	GPathogenic
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 495549	NM_000098.3(CPT2):c.98del (p.Gln33fs)	CPT2, LOC129930561 (Q33fs)	Deletion (frameshift variant)	Carnitine palmitoyltransferase II deficiency +5 more	GPathogenic
Select item 2680949	NM_000098.3(CPT2):c.106dup (p.Gln36fs)	CPT2, LOC129930561 (Q36fs)	Duplication (frameshift variant)	Encephalopathy, acute, infection-induced, susceptibility to, 4	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)	Chronic pain +13 more	GPathogenic