極長鎖アシルCoA脱水素酵素欠損症

小児・神経疾患

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Type	Name	Gene Symbol	Clinical Significance	Chromosome	Start	Stop	Reference Allele	Alternate Allele	Review Status	Other IDs
Type	Name	Gene Symbol	Clinical Significance	Chromosome	(GRCh37)		Reference Allele	Alternate Allele	Review Status	Other IDs
single nucleotide variant	NM_000018.4(ACADVL):c.1376G>A (p.Arg459Gln)	ACADVL	Pathogenic	17	7127330	7127330	G	A	reviewed by expert panel	ClinGen:CA312275
Duplication	NM_000018.4(ACADVL):c.869dup (p.Ile291fs)	ACADVL	Likely pathogenic	17	7125607	7125608	C	CG	reviewed by expert panel	ClinGen:CA10607042
single nucleotide variant	NM_000018.4(ACADVL):c.138+2T>C	ACADVL	Likely pathogenic	17	7123518	7123518	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041857
single nucleotide variant	NM_000018.4(ACADVL):c.277+1G>T	ACADVL	Likely pathogenic	17	7123996	7123996	G	T	criteria provided, single submitter	ClinGen:CA16041858
Deletion	NM_000018.4(ACADVL):c.308_309del (p.Lys103fs)	ACADVL	Likely pathogenic	17	7124114	7124115	TAA	T	reviewed by expert panel	ClinGen:CA16041859
single nucleotide variant	NM_000018.4(ACADVL):c.478-1G>C	ACADVL	Likely pathogenic	17	7124856	7124856	G	C	criteria provided, single submitter	ClinGen:CA16041860
Deletion	NM_000018.4(ACADVL):c.497_498del (p.Ile166fs)	ACADVL	Likely pathogenic	17	7124876	7124877	ATC	A	reviewed by expert panel	ClinGen:CA16041861
Deletion	NM_000018.4(ACADVL):c.644_647del (p.Phe214_Cys215insTer)	ACADVL	Pathogenic	17	7125289	7125292	TTCTG	T	reviewed by expert panel	ClinGen:CA16041862
Deletion	NM_000018.4(ACADVL):c.799_802del (p.Val267fs)	ACADVL	Pathogenic	17	7125541	7125544	CAGTT	C	reviewed by expert panel	ClinGen:CA8337855
single nucleotide variant	NM_000018.4(ACADVL):c.865G>A (p.Gly289Arg)	ACADVL	Likely pathogenic	17	7125608	7125608	G	A	reviewed by expert panel	ClinGen:CA8337873