"Fulgent Genetics, Fulgent Genetics"[submitter] AND "LOC129930561"[gen - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1669628	NM_000098.3(CPT2):c.15G>C (p.Leu5=)	CPT2, LOC129930561	Single nucleotide variant (synonymous variant)	Carnitine palmitoyltransferase II deficiency +4 more	GLikely benign
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 943040	NM_000098.3(CPT2):c.65G>A (p.Ser22Asn)	CPT2, LOC129930561 (S22N)	Single nucleotide variant (missense variant)	Carnitine palmitoyl transferase II deficiency, severe infantile form +4 more	GUncertain significance
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 740236	NM_000098.3(CPT2):c.103C>T (p.Leu35=)	CPT2, LOC129930561	Single nucleotide variant (synonymous variant)	Encephalopathy, acute, infection-induced, susceptibility to, 4 +4 more	GLikely benign
Select item 1539953	NM_000098.3(CPT2):c.135C>T (p.Tyr45=)	CPT2, LOC129930561	Single nucleotide variant (synonymous variant)	Carnitine palmitoyl transferase II deficiency, severe infantile form +4 more	GLikely benign
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