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

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58079	GRCh38/hg38 1p32.3-31.1(chr1:52595352-76767765)x3	LOC129388541, LOC129388542 +570 more	Copy number gain	See cases	GPathogenic
Select item 1026121	NM_000098.3(CPT2):c.53C>T (p.Pro18Leu)	CPT2, LOC129930561 (P18L)	Single nucleotide variant (missense variant)	Carnitine palmitoyltransferase II deficiency +5 more	GUncertain significance
Select item 495549	NM_000098.3(CPT2):c.98del (p.Gln33fs)	CPT2, LOC129930561 (Q33fs)	Deletion (frameshift variant)	not provided +5 more	GPathogenic
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 1200879	NM_000098.3(CPT2):c.122C>T (p.Pro41Leu)	CPT2, LOC129930561 (P41L)	Single nucleotide variant (missense variant)	Carnitine palmitoyl transferase II deficiency, severe infantile form +5 more	GUncertain significance
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
Select item 1034501	NM_000098.3(CPT2):c.152+5G>A	CPT2, LOC129930561	Single nucleotide variant (intron variant)	Carnitine palmitoyl transferase II deficiency, severe infantile form +2 more	GConflicting classifications of pathogenicity
Select item 1177631	NM_000098.3(CPT2):c.152+56C>A	CPT2, LOC129930561	Single nucleotide variant (intron variant)	Carnitine palmitoyl transferase II deficiency, severe infantile form +2 more	GBenign