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
Deletion	NM_000018.4(ACADVL):c.1141_1143del (p.Glu381del)	ACADVL	Pathogenic	17	7126513	7126515	CAGG	C	reviewed by expert panel	ClinGen:CA16041870
single nucleotide variant	NM_000018.4(ACADVL):c.1077+2T>C	ACADVL	Pathogenic	17	7126186	7126186	T	C	reviewed by expert panel	ClinGen:CA16041868
Indel	NM_000018.4(ACADVL):c.1077_1077+1delinsCAC	ACADVL	Pathogenic	17	7126184	7126185	GG	CAC	reviewed by expert panel	ClinGen:CA16041866
Deletion	NM_000018.4(ACADVL):c.799_802del (p.Val267fs)	ACADVL	Pathogenic	17	7125541	7125544	CAGTT	C	reviewed by expert panel	ClinGen:CA8337855
Deletion	NM_000018.4(ACADVL):c.644_647del (p.Phe214_Cys215insTer)	ACADVL	Pathogenic	17	7125289	7125292	TTCTG	T	reviewed by expert panel	ClinGen:CA16041862
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
single nucleotide variant	NM_000018.4(ACADVL):c.343-1G>A	ACADVL	Pathogenic	17	7124242	7124242	G	A	reviewed by expert panel	-
single nucleotide variant	NM_000018.4(ACADVL):c.1357C>T (p.Arg453Ter)	ACADVL	Pathogenic	17	7127311	7127311	C	T	reviewed by expert panel	ClinGen:CA274997
single nucleotide variant	NM_000018.4(ACADVL):c.1532+1G>A	ACADVL	Pathogenic	17	7127563	7127563	G	A	criteria provided, single submitter	ClinGen:CA273297
single nucleotide variant	NM_000018.4(ACADVL):c.65C>A (p.Ser22Ter)	ACADVL	Pathogenic	17	7123443	7123443	C	A	reviewed by expert panel	ClinGen:CA233425