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.1679-6G>A	ACADVL	Likely pathogenic	17	7127955	7127955	G	A	reviewed by expert panel	ClinGen:CA312281
Deletion	NM_000018.4(ACADVL):c.1630_1645del (p.Ala544fs)	ACADVL	Likely pathogenic	17	7127823	7127838	TGCCACTGTGGTGGAGG	T	reviewed by expert panel	ClinGen:CA624860771
Deletion	NM_000018.4(ACADVL):c.1612del (p.Arg538fs)	ACADVL	Likely pathogenic	17	7127805	7127805	AC	A	criteria provided, single submitter	ClinGen:CA658658534
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
single nucleotide variant	NM_000018.4(ACADVL):c.1606-2A>C	ACADVL	Likely pathogenic	17	7127797	7127797	A	C	criteria provided, single submitter	-
single nucleotide variant	NM_000018.4(ACADVL):c.1605+2T>C	ACADVL	Likely pathogenic	17	7127714	7127714	T	C	reviewed by expert panel	-
Duplication	NM_000018.4(ACADVL):c.1593dup (p.Ser532fs)	ACADVL	Likely pathogenic	17	7127698	7127699	C	CG	reviewed by expert panel	ClinGen:CA16616934
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.1532+1G>A	ACADVL	Pathogenic	17	7127563	7127563	G	A	criteria provided, single submitter	ClinGen:CA273297
single nucleotide variant	NM_000018.4(ACADVL):c.1434+2T>G	ACADVL	Likely pathogenic	17	7127390	7127390	T	G	criteria provided, single submitter	-