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.1280G>A (p.Trp427Ter)	ACADVL	Likely pathogenic	17	7127142	7127142	G	A	criteria provided, single submitter	ClinGen:CA16041872
single nucleotide variant	NM_000018.4(ACADVL):c.1333-2A>T	ACADVL	Likely pathogenic	17	7127285	7127285	A	T	criteria provided, single submitter	ClinGen:CA16041873
Duplication	NM_000018.4(ACADVL):c.1355dup (p.Arg453fs)	ACADVL	Likely pathogenic	17	7127308	7127309	C	CT	criteria provided, single submitter	ClinGen:CA16041874
single nucleotide variant	NM_000018.4(ACADVL):c.1532+2T>C	ACADVL	Pathogenic/Likely pathogenic	17	7127564	7127564	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041875
single nucleotide variant	NM_000018.4(ACADVL):c.1606-1G>A	ACADVL	Likely pathogenic	17	7127798	7127798	G	A	criteria provided, single submitter	ClinGen:CA16041876
Deletion	NM_000018.4(ACADVL):c.1765del (p.Ser588_Leu589insTer)	ACADVL	Likely pathogenic	17	7128139	7128139	TC	T	criteria provided, single submitter	ClinGen:CA16041877
Deletion	NM_000018.4(ACADVL):c.316_325del (p.Val106fs)	ACADVL	Likely pathogenic	17	7124120	7124129	GCTGGTGGAGC	G	reviewed by expert panel	ClinGen:CA16043042
Deletion	NM_000018.4(ACADVL):c.1730_1740del (p.Ala577fs)	ACADVL	Likely pathogenic	17	7128010	7128020	ATGCCATGGTGG	A	reviewed by expert panel	ClinGen:CA16043045
single nucleotide variant	NM_000018.4(ACADVL):c.1358G>A (p.Arg453Gln)	ACADVL	Likely pathogenic	17	7127312	7127312	G	A	reviewed by expert panel	ClinGen:CA8338089
single nucleotide variant	NM_000018.4(ACADVL):c.364A>G (p.Asn122Asp)	ACADVL	Likely pathogenic	17	7124264	7124264	A	G	reviewed by expert panel	ClinGen:CA16603209